MCID: LPD009
MIFTS: 48

Lipid Storage Disease

Categories: Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lipid Storage Disease

MalaCards integrated aliases for Lipid Storage Disease:

Name: Lipid Storage Disease 12 58 15
Lipoidosis 12 71
Inborn Lipid Storage Disorder 12
Lipid Storage Diseases 53
Lipoid Storage Diseas 12
Lipidoses 43

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:9455
ICD9CM 34 272.7 272.8
MeSH 43 D008064
SNOMED-CT 67 10741005 11455007
ICD10 32 E75.6
ICD10 via Orphanet 33 E75.5 E75.6
Orphanet 58 ORPHA79204
UMLS 71 C0023794 C0029591

Summaries for Lipid Storage Disease

NINDS : 53 Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in the body.  Lipids are important parts of the myelin sheath that coats and protects the nerves.  Over time, this excessive storage of fats can cause permanent damage to cells and tissues in the brain and peripheral nervous system, and in other parts of the body.  Symptoms may appear early in life or develop in the teen or even adult years.  Neurological complications of the lipid storage diseases may include: lack of muscle coordination, brain degeneration, seizures, loss of muscle tone, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, increased sensitivity to touch, pain in the arms and legs, and clouding of the cornea.

MalaCards based summary : Lipid Storage Disease, also known as lipoidosis, is related to farber lipogranulomatosis and metachromatic leukodystrophy. An important gene associated with Lipid Storage Disease is PNPLA2 (Patatin Like Phospholipase Domain Containing 2), and among its related pathways/superpathways are Metabolism and Glucose / Energy Metabolism. The drugs Bezafibrate and Clofibric Acid have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and bone, and related phenotypes are cardiovascular system and homeostasis/metabolism

Disease Ontology : 12 A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.

Wikipedia : 74 A lipid storage disorder (or lipidosis) is any one of a group of inherited metabolic disorders in which... more...

Related Diseases for Lipid Storage Disease

Diseases related to Lipid Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 221, show less)
# Related Disease Score Top Affiliating Genes
1 farber lipogranulomatosis 33.7 PSAP NPC1 GALC
2 metachromatic leukodystrophy 33.6 PSAP INS GLA GALC
3 gaucher disease, type i 33.4 PSAP GLA GBA GALC
4 niemann-pick disease 33.4 SMPD2 PSAP NPC1 GBA
5 niemann-pick disease, type c1 33.4 PSAP NPC1 LIPA
6 fabry disease 33.4 PSAP GLA GBA
7 fatty liver disease 33.3 SREBF1 PNPLA3 MIR122 INS GPT ADIPOQ
8 sphingolipidosis 33.3 SMPD2 PSAP NPC1 H2AC18 GLA GBA
9 gm2 gangliosidosis 31.5 PSAP NPC1 GLA GBA
10 liver cirrhosis 31.4 MIR199A1 MIR122 INS GPT ADIPOQ
11 tay-sachs disease 31.2 PSAP NPC1 GLA GBA
12 alcoholic liver cirrhosis 31.0 PNPLA3 INS GPT
13 neuronal ceroid lipofuscinosis 31.0 PSAP NPC1 H2AC18 CLN3
14 lysosomal disease 30.9 GBA GALC
15 sandhoff disease 30.8 PSAP NPC1 GLA
16 krabbe disease 30.8 PSAP GLA GBA GALC
17 gm1 gangliosidosis 30.8 PSAP NPC1 GLA GALC CLN3
18 lipid metabolism disorder 30.7 SREBF1 MIR122 INS H2AC18 ADIPOQ
19 familial hypercholesterolemia 30.7 SREBF1 LIPA INS H2AC18 GPT ADIPOQ
20 sleep apnea 30.6 INS GPT ADIPOQ
21 familial hyperlipidemia 30.6 SREBF1 LIPA INS H2AC18 GPT GBA
22 overnutrition 30.5 SREBF1 PNPLA2 MIR199A1 MIR122 INS H2AC18
23 body mass index quantitative trait locus 11 30.4 SREBF1 PNPLA3 PNPLA2 MIR199A1 MIR122 LIPA
24 inherited metabolic disorder 30.2 SREBF1 PNPLA3 NPC1 MIR199A1 INS H2AC18
25 lysosomal storage disease 30.2 SREBF1 PSAP PNPLA3 PNPLA2 NPC1 MIR199A1
26 neutral lipid storage disease with myopathy 13.0
27 chanarin-dorfman syndrome 12.6
28 retinal dystrophy in systemic or cerebroretinal lipidoses 12.2
29 cerebrotendinous xanthomatosis 11.7
30 lipoid proteinosis of urbach and wiethe 11.6
31 xanthomatosis 11.5
32 lysosomal acid lipase deficiency 11.5
33 myoclonus 11.5
34 adrenoleukodystrophy 11.2
35 lysosomal and lipase deficiency 11.2
36 mucolipidosis 11.2
37 cholesterol ester storage disease 11.2
38 lipidosis with triglycerid storage disease 11.2
39 infantile krabbe disease 10.8 PSAP GALC
40 niemann-pick disease, type a 10.8 SMPD2 PSAP NPC1
41 non-alcoholic steatohepatitis 10.8 INS GPT ADIPOQ
42 functional gastric disease 10.8 INS H2AC18 GPT
43 cecal disease 10.7 H2AC18 GPT CCR6
44 aspiration pneumonia 10.7 NPC1 INS GPT
45 splenic disease 10.7 H2AC18 GPT CCR6
46 hepatic vascular disease 10.7 MIR199A1 GPT CCR6
47 adult syndrome 10.7 INS H2AC18 ADIPOQ
48 autoimmune disease of urogenital tract 10.7 H2AC18 GPT CCR6
49 prediabetes syndrome 10.7 INS GPT ADIPOQ
50 lipodystrophy, familial partial, type 2 10.7 SREBF1 INS ADIPOQ
51 autoimmune disease of endocrine system 10.7 INS H2AC18 CCR6
52 endogenous depression 10.7 LIPA INS H2AC18
53 exanthem 10.7 H2AC18 GPT CCR6
54 endocrine pancreas disease 10.7 SREBF1 INS ADIPOQ
55 fatty liver disease, nonalcoholic 1 10.7 PNPLA3 INS GPT ADIPOQ
56 acute cystitis 10.7 INS H2AC18 GPT CCR6
57 autoimmune disease of gastrointestinal tract 10.7 INS H2AC18 GPT CCR6
58 bile duct disease 10.7 MIR199A1 H2AC18 GPT CCR6
59 alcohol use disorder 10.7 MIR199A1 H2AC18 GPT CCR6
60 vein disease 10.7 INS GPT CCR6
61 viral hepatitis 10.7 PNPLA3 MIR122 INS GPT
62 biliary tract disease 10.7 MIR199A1 H2AC18 GPT CCR6
63 gastrointestinal system benign neoplasm 10.7 MIR199A1 INS H2AC18 CCR6
64 familial partial lipodystrophy 10.7 SREBF1 INS ADIPOQ
65 hair disease 10.7 INS H2AC18 GPT CCR6
66 heart conduction disease 10.7 MIR199A1 INS H2AC18
67 hypotrichosis 1 10.7 INS H2AC18 CCR6
68 muscle tissue disease 10.7 MIR199A1 INS H2AC18 CCR6
69 uvulitis 10.7 LIPA INS
70 dengue disease 10.7 H2AC18 GPT CCR6
71 leukocyte disease 10.7 MIR199A1 MIR122 H2AC18 CCR6
72 thyroid gland disease 10.7 MIR199A1 INS H2AC18 CCR6
73 contractures, pterygia, and variable skeletal fusions syndrome 1a 10.7 MIR199A1 INS H2AC18 CCR6
74 uveal disease 10.7 MIR199A1 H2AC18 CCR6
75 typhoid fever 10.7 H2AC18 GPT CCR6
76 testicular disease 10.7 MIR199A1 H2AC18 CCR6
77 abdominal obesity-metabolic syndrome 1 10.7 MIR122 INS ADIPOQ
78 bone resorption disease 10.7 MIR199A1 INS H2AC18 CYP27A1 CCR6
79 bone remodeling disease 10.7 MIR199A1 INS H2AC18 CYP27A1 CCR6
80 autosomal genetic disease 10.7 MIR199A1 INS H2AC18 CCR6
81 immune system disease 10.7 MIR199A1 INS H2AC18 CCR6
82 disease of mental health 10.7 MIR199A1 INS H2AC18 CCR6
83 retinal vascular disease 10.7 MIR199A1 INS H2AC18
84 nervous system disease 10.7 MIR199A1 MIR122 H2AC18 CCR6
85 mouth disease 10.7 MIR199A1 H2AC18 GBA CCR6
86 substance abuse 10.7 MIR199A1 INS H2AC18 GPT CCR6
87 mature b-cell neoplasm 10.7 MIR199A1 H2AC18 CCR6
88 pancreas disease 10.7 MIR199A1 INS H2AC18 CCR6
89 bacterial pneumonia 10.7 H2AC18 GPT CCR6
90 nervous system cancer 10.7 MIR199A1 MIR122 H2AC18 CCR6
91 peripheral nervous system disease 10.7 INS H2AC18 GPT CCR6
92 gaucher disease, perinatal lethal 10.7 PSAP NPC1 LIPA GLA GBA GALC
93 stomach disease 10.7 MIR199A1 MIR122 H2AC18 CCR6
94 blood coagulation disease 10.7 H2AC18 GPT CCR6
95 viral infectious disease 10.7 MIR122 H2AC18 GPT CCR6
96 leptin deficiency or dysfunction 10.7 SREBF1 PNPLA3 INS GPT ADIPOQ
97 intestinal benign neoplasm 10.7 MIR199A1 H2AC18 CCR6
98 hypotrichosis 10.7 INS H2AC18 GPT CCR6
99 arteries, anomalies of 10.7 MIR199A1 INS H2AC18 CCR6 ADIPOQ
100 large intestine cancer 10.7 MIR199A1 MIR122 H2AC18 CCR6
101 urinary system disease 10.7 MIR199A1 INS H2AC18 CCR6
102 respiratory system cancer 10.7 MIR199A1 MIR122 H2AC18 CCR6
103 endocrine organ benign neoplasm 10.7 MIR199A1 INS H2AC18
104 nutritional deficiency disease 10.7 H2AC18 CCR6 ADIPOQ
105 thoracic cancer 10.6 MIR199A1 MIR122 H2AC18 CCR6
106 placenta disease 10.6 INS H2AC18 ADIPOQ
107 muscular disease 10.6 PNPLA2 MIR199A1 INS H2AC18 GPT CCR6
108 cardiovascular system disease 10.6 MIR199A1 INS H2AC18 CCR6 ADIPOQ
109 retinal cancer 10.6 MIR199A1 MIR122 H2AC18
110 endocrine gland cancer 10.6 MIR199A1 MIR122 H2AC18 CCR6
111 intestinal disease 10.6 MIR199A1 MIR122 H2AC18 CCR6
112 liver disease 10.6 SREBF1 PNPLA3 MIR122 INS GPT ADIPOQ
113 parasitic protozoa infectious disease 10.6 H2AC18 GPT CCR6
114 non-alcoholic fatty liver disease 10.6 SREBF1 PNPLA3 MIR122 INS GPT ADIPOQ
115 portal hypertension 10.6 PNPLA3 INS GPT
116 gm1-gangliosidosis, type i 10.6 PSAP GLA
117 respiratory system disease 10.6 MIR199A1 MIR122 H2AC18 CCR6
118 gastrointestinal system cancer 10.6 MIR199A1 MIR122 H2AC18 CCR6
119 pulmonary disease, chronic obstructive 10.6 MIR199A1 INS H2AC18 CCR6
120 skin melanoma 10.6 MIR199A1 H2AC18 CCR6
121 idiopathic edema 10.6 INS ADIPOQ
122 cell type cancer 10.6 MIR199A1 MIR122 H2AC18 CCR6
123 gastrointestinal system disease 10.6 MIR199A1 MIR122 H2AC18 CCR6
124 wilson disease 10.6 PNPLA3 NPC1 GPT
125 primary bacterial infectious disease 10.6 H2AC18 GPT CCR6
126 malignant ovarian surface epithelial-stromal neoplasm 10.6 MIR199A1 H2AC18 CCR6
127 glucose metabolism disease 10.6 SREBF1 MIR199A1 INS H2AC18 GPT CCR6
128 acquired metabolic disease 10.6 SREBF1 MIR199A1 INS H2AC18 GPT CCR6
129 ovary epithelial cancer 10.6 MIR199A1 H2AC18 CCR6
130 myopathy 10.6
131 gallbladder disease 10.6 MIR199A1 INS GPT
132 aceruloplasminemia 10.6 PNPLA2 NPC1 INS H2AC18
133 acquired generalized lipodystrophy 10.5 INS ADIPOQ
134 cell type benign neoplasm 10.5 MIR199A1 H2AC18 CCR6
135 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.5 INS ADIPOQ
136 bone marrow cancer 10.5 MIR199A1 H2AC18 CCR6
137 autoimmune polyendocrine syndrome, type ii 10.5 INS CCR6
138 gaucher disease, type ii 10.5 PSAP GBA
139 diabetes mellitus, noninsulin-dependent 10.5 SREBF1 PNPLA3 PNPLA2 MIR199A1 INS H2AC18
140 ichthyosis 10.5
141 nasopharyngeal disease 10.4 MIR199A1 H2AC18 CCR6
142 bone inflammation disease 10.4 MIR199A1 H2AC18 CCR6
143 hydrops of gallbladder 10.3 GPT GBA
144 hypercholesterolemia, familial, 1 10.3
145 mucopolysaccharidoses 10.2
146 gaucher's disease 10.2
147 autosomal recessive disease 10.2
148 cataract 10.2
149 blood platelet disease 10.1 H2AC18 GPT CCR6
150 gangliosidosis 10.1
151 dilated cardiomyopathy 10.0
152 muscular lipidosis 10.0
153 rheumatoid arthritis 10.0
154 mental retardation, skeletal dysplasia, and abducens palsy 10.0
155 ceroid lipofuscinosis, neuronal, 10 10.0
156 mastoiditis 10.0
157 strawberry gallbladder 10.0
158 lipoid nephrosis 10.0
159 leech infestation 10.0
160 iritis 10.0
161 ochronosis 10.0
162 cholecystitis 10.0
163 glycogen storage disease 10.0
164 acute pancreatitis 10.0
165 histiocytosis 10.0
166 erdheim-chester disease 10.0
167 pustulosis of palm and sole 10.0
168 pancreatitis 10.0
169 arthritis 10.0
170 psoriasis 10.0
171 exophthalmos 10.0
172 splenomegaly 10.0
173 thyroid carcinoma 10.0
174 multiple system atrophy 1 10.0
175 pick disease of brain 10.0
176 ceroid storage disease 10.0
177 leprosy 3 10.0
178 galactosialidosis 10.0
179 neuraminidase deficiency 10.0
180 sjogren-larsson syndrome 10.0
181 neuronal ceroid-lipofuscinoses 10.0
182 demyelinating disease 10.0
183 glycoproteinosis 10.0
184 peroxisomal disease 10.0
185 adrenomyeloneuropathy 10.0
186 aminoacidopathies 10.0
187 hansen's disease 10.0
188 generalized gangliosidoses 10.0
189 triglyceride deposit cardiomyovasculopathy 10.0
190 atherosclerosis susceptibility 9.8
191 hypertriglyceridemia, familial 9.8
192 ichthyosis vulgaris 9.8
193 tangier disease 9.8
194 sitosterolemia 1 9.8
195 carnitine deficiency, systemic primary 9.8
196 cryptorchidism, unilateral or bilateral 9.8
197 multiple sulfatase deficiency 9.8
198 ichthyosis, x-linked 9.8
199 ataxia and polyneuropathy, adult-onset 9.8
200 gallbladder disease 1 9.8
201 branchiootic syndrome 1 9.8
202 dermatitis, atopic 9.8
203 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
204 autosomal recessive congenital ichthyosis 9.8
205 sitosterolemia 9.8
206 sensorineural hearing loss 9.8
207 leukodystrophy 9.8
208 protein-losing enteropathy 9.8
209 cholestasis 9.8
210 reye syndrome 9.8
211 keratopathy 9.8
212 arteriosclerosis 9.8
213 neuromuscular disease 9.8
214 angiokeratoma 9.8
215 verruciform xanthoma of skin 9.8
216 chronic kidney disease 9.8
217 hypoglycemia 9.8
218 acid sphingomyelinase deficiency 9.8
219 hypertrophic cardiomyopathy 9.8
220 erythrokeratoderma 9.8
221 metabolic myopathy 9.8

Comorbidity relations with Lipid Storage Disease via Phenotypic Disease Network (PDN): (showing 1, show less)


Hypertension, Essential

Graphical network of the top 20 diseases related to Lipid Storage Disease:



Diseases related to Lipid Storage Disease

Symptoms & Phenotypes for Lipid Storage Disease

MGI Mouse Phenotypes related to Lipid Storage Disease:

45 (showing 9, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 ABHD5 ADIPOQ CCR6 CYP27A1 GALC GBA
2 homeostasis/metabolism MP:0005376 10.2 ABHD5 ADIPOQ CCR6 CLN3 CYP27A1 GALC
3 hematopoietic system MP:0005397 10.11 ABHD5 ADIPOQ CCR6 CLN3 CYP27A1 GALC
4 endocrine/exocrine gland MP:0005379 10.06 ABHD5 ADIPOQ CYP27A1 GBA INS LIPA
5 adipose tissue MP:0005375 10 ADIPOQ CYP27A1 INS LIPA NPC1 PNPLA2
6 immune system MP:0005387 10 ABHD5 ADIPOQ CCR6 CLN3 GALC GBA
7 liver/biliary system MP:0005370 10 ABHD5 ADIPOQ CLN3 CYP27A1 GALC GBA
8 nervous system MP:0003631 9.7 ADIPOQ CCR6 CLN3 CYP27A1 GALC GBA
9 renal/urinary system MP:0005367 9.23 ADIPOQ CLN3 CYP27A1 GALC GLA INS

Drugs & Therapeutics for Lipid Storage Disease

Drugs for Lipid Storage Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 41, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2 Clofibric Acid Phase 4 882-09-7
3
Simvastatin Approved Phase 3 79902-63-9 54454
4
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
5
Atorvastatin Approved Phase 3 134523-00-5 60823
6
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
7
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
8
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
9
Torcetrapib Investigational Phase 3 262352-17-0 159325
10 Rosuvastatin Calcium Phase 2, Phase 3 147098-20-2
11 Calcium, Dietary Phase 2, Phase 3
12 Vitamins Phase 3
13 Trace Elements Phase 3
14 Vitamin B Complex Phase 3
15 Micronutrients Phase 3
16 Vitamin B3 Phase 3
17 Vitamin B9 Phase 3
18 Nutrients Phase 3
19 Folate Phase 3
20 Vasodilator Agents Phase 3
21 Nicotinic Acids Phase 3
22 Pharmaceutical Solutions Phase 2, Phase 3
23 Hypolipidemic Agents Phase 3
24 Anticholesteremic Agents Phase 3
25 Antimetabolites Phase 3
26 Lipid Regulating Agents Phase 3
27 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
28
Ezetimibe Approved Phase 2 163222-33-1 150311
29
Eliglustat Approved Phase 2 491833-29-5 23652731
30 Gamma-sitosterol Phase 2
31 Fenofibric acid Approved 42017-89-0
32
Fenofibrate Approved 49562-28-9 3339
33 Barley Approved
34
Calcium polycarbophil Approved 126040-58-2
35 Vaccines Early Phase 1
36 Antibodies Early Phase 1
37 Immunologic Factors Early Phase 1
38 Immunoglobulins Early Phase 1
39 Phytosterol
40 Psyllium
41 Soy Bean

Interventional clinical trials:

(showing 35, show less)
# Name Status NCT ID Phase Drugs
1 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
2 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4 Cerezyme (imiglucerase for injection)
3 A Phase IV, Multicenter, Randomized, Dose Frequency Study of the Safety and Efficacy of Cerezyme® Infusions Every Four Weeks Versus Every Two Weeks in the Maintenance Therapy of Patients With Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
4 An 8-Week, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction in Subjects With Mixed Hyperlipoproteinemia Withdrawn NCT02069106 Phase 4
5 Randomized. Open Label Trial of Comparison Between Rosuvastatin and Atorvastatin on Oxidative Stress, Inflammatory and Thrombogenic Biomarkers in Patients With Hyperlipidemia Unknown status NCT02979704 Phase 2, Phase 3 Rosuvastatin;Atorvastatin
6 A Multicenter, Randomized, Double-Blind, "Factorial" Design Study to Evaluate the Lipid-Altering Efficacy and Safety of Coadministered MK0524B Tablets in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia Completed NCT00269217 Phase 3 niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
7 A Worldwide, Multicenter, Double-Blind, Randomized, Parallel, Placebo-Controlled Study to Evaluate the Lipid-Altering Efficacy, Safety and Tolerability of MK0524A in Patients With Primary Hypercholesterolemia or Mixed Hyperlipidemia Completed NCT00269204 Phase 3 niacin (+) laropiprant;ER-niacin
8 A Multicenter, Randomized, Double-Blind, Parallel Group, 12 Week Study to Evaluate the Efficacy and Safety of MK0524B Versus Atorvastatin in Patients With Mixed Hyperlipidemia Completed NCT00289900 Phase 3 MK-0524A;Atorvastatin;Simvastatin
9 A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
10 Phase 3 Multi-Center, Double-Blind, Randomized, Parallel Group, Carotid B-mode Ultrasound Evaluation of the Anti-Atherosclerotic Efficacy, Safety, and Tolerability of Fixed Combination CP-529,414/Atorvastatin, Administered Orally, Once Daily (QD) for 24 Months, Compared With Atorvastatin Alone, in Subjects With Mixed Hyperlipidemia Terminated NCT00134238 Phase 3 torcetrapib/atorvastatin;atorvastatin
11 A Phase 2 Randomized, Double-Blind, Dose-Response Efficacy and Safety Study of SCH 900271 Compared to Placebo in Subjects With Primary Hypercholesterolemia (Familial and Nonfamilial) or Mixed Hyperlipidemia Completed NCT00941603 Phase 2 SCH 900271 15mg;SCH 900271;SCH 900271;SCH 900271;SCH 900271;Placebo
12 A Multi-Center, Open-Label Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency Completed NCT02112994 Phase 2 Sebelipase Alfa
13 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate SCH-58235 in Homozygous Sitosterolemia Completed NCT00045812 Phase 2 SCH-58235
14 A Phase 2, Open-Label, Multi-Center Study Evaluating the Efficacy, Safety and Pharmacokinetics of Genz-112638 in Gaucher Type 1 Patients Completed NCT00358150 Phase 2 Eliglustat tartrate
15 A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004704 Phase 2 GZ402665
16 A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Olipudase Alfa in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
17 Immunization Against oxLDL in Patients With Lysosomal Lipid Diseases and Associated Metabolic Disorders Unknown status NCT02707211 Early Phase 1
18 Comparison of the Efficacy and AtorVastatin 20mg mOnotherapy Versus Combination Atorvastatin/Fenofibric Acid 10/135mg in the Mixed hyperlipiDemia Who Were Not at Lipid gOals With Atorvastatin 10mg Monotherapy. Unknown status NCT01974297 Atorvastatin 10mg, fenofibric acid 135mg;atorvastatin 20mg
19 Registry of Fabry Disease: A Multicenter, Longitudinal Observational Study Completed NCT00055016
20 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
21 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Recruiting NCT01306604
22 International Collaborative Gaucher Group (ICGG) Gaucher Registry Recruiting NCT00358943
23 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Recruiting NCT03883750
24 Biomarker for Metachromatic Leukodystrophy Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT01536327
25 A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD) Recruiting NCT04106544
26 Lyso-Gb1 as Long-term Prognostic Biomarker in Gaucher Disease - an International Multicenter Epidemiological Study (LYSO-PROVE) to Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease Recruiting NCT02416661
27 Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease Active, not recruiting NCT03233841
28 DASH Dietary Pattern and Cardiometabolic Risk: An Umbrella Review of Systematic Reviews and Meta-analyses of Prospective Cohort Studies and Randomized and Non-randomized Controlled Trials Active, not recruiting NCT03542370
29 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Active, not recruiting NCT02635269
30 Effect of a Portfolio Dietary Pattern on Cardiometabolic Risk: A Systematic Review and Meta-analysis of Controlled Trials Active, not recruiting NCT03534414
31 The Investigation of Daily Living Activities and Exercise Capacity in Lipid Storage Diseases Not yet recruiting NCT03875105
32 Assiut University Children 's Hospital Not yet recruiting NCT03590548
33 Clinical Study on the Safety and Efficacy of Medium-chain Fatty Acid Capsules (CNT-02) for Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Neutral Lipid Storage Disease With Myopathy (NLSD-M) Terminated NCT02830763
34 Atherogenic Lipoprotein Phenotype and LDL Size and Subclasses in Patients With Primary Hyperparathyroidism Terminated NCT00961701
35 Atherogenic Lipoprotein Phenotype and LDL Size and Subclasses in Patients With Subclinical Hypothyroidism Terminated NCT00962221

Search NIH Clinical Center for Lipid Storage Disease

Cochrane evidence based reviews: lipidoses

Genetic Tests for Lipid Storage Disease

Anatomical Context for Lipid Storage Disease

MalaCards organs/tissues related to Lipid Storage Disease:

40
Brain, Liver, Bone, Bone Marrow, Spleen, Skin, Testes

Publications for Lipid Storage Disease

Articles related to Lipid Storage Disease:

(showing 514, show less)
# Title Authors PMID Year
1
Anti-inflammatory therapy in atherosclerosis. 61
31585888 2020
2
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis. 61
31796091 2019
3
[The value of muscle biopsy in rhabdomyolysis]. 61
31775453 2019
4
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy. 61
31729045 2019
5
The lipid droplet-associated protein ABHD5 protects the heart through proteolysis of HDAC4. 61
31742248 2019
6
Neutral lipid storage disease with myopathy in China: a large multicentric cohort study. 61
31655616 2019
7
Gallbladder Papilloma in a Child Unmasking Metachromatic Leukodystrophy: A Case Report With Review of Literature. 61
30912695 2019
8
Clinical findings and autophagic pathology in neutral lipid storage disease with myopathy. 61
30738494 2019
9
A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis. 61
30737051 2019
10
Activated mTOR signaling pathway in myofibers with inherited metabolic defect might be an evidence for mTOR inhibition therapies. 61
30897595 2019
11
Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function. 61
30795549 2019
12
Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis. 61
30891321 2019
13
Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis. 61
30352762 2018
14
Pulmonary functions and sleep-related breathing disorders in lipid storage disease. 61
29497949 2018
15
Excessive dietary lipid intake provokes an acquired form of lysosomal lipid storage disease in the kidney. 61
30073645 2018
16
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect. 61
30285904 2018
17
Lipid storage myopathies: Current treatments and future directions. 61
30099045 2018
18
Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy. 61
30223778 2018
19
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant. 61
29779757 2018
20
Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia. 61
29884776 2018
21
Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China. 61
29539587 2018
22
Dietary intervention rescues myopathy associated with neurofibromatosis type 1. 61
29228356 2018
23
Teaching NeuroImages: Cerebrotendinous xanthomatosis: A rare treatable adult-onset lipid storage disease. 61
29440550 2018
24
Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature. 61
29290526 2018
25
Lipid metabolism and carcinogenesis, cancer development. 61
29888102 2018
26
Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts. 61
29079218 2017
27
The phospholipase PNPLA7 functions as a lysophosphatidylcholine hydrolase and interacts with lipid droplets through its catalytic domain. 61
28887301 2017
28
Aberrant activation of Cdc2/cyclin B1 is involved in initiation of cytoskeletal pathology in murine Niemann-Pick disease type C. 61
29058287 2017
29
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. 61
28623566 2017
30
Role of Cytology in Early Diagnosis of Cerebrotendinous Xanthomas. 61
29118481 2017
31
Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review. 61
29242796 2017
32
Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma. 61
29207722 2017
33
Erratum to: Muscle MRI in neutral lipid storage disease (NLSD). 61
28608302 2017
34
Muscle MRI in neutral lipid storage disease (NLSD). 61
28503705 2017
35
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement. 61
28258942 2017
36
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM. 61
28391974 2017
37
Niemann-Pick disease, type C and Roscoe Brady. 61
27923544 2017
38
Bilateral Achilles Tendon Xanthomas in a Patient with Cerebrotendinous XanthomatosisA Case Report. 61
28271939 2017
39
Role of Oxidative Stress in the Genesis of Atherosclerosis and Diabetes Mellitus: A Personal Look Back on 50 Years of Research. 61
27677837 2017
40
[The cognitive biological function, difference in etiology and generality of pathogenesis of metabolic pandemics. The metabolism regulation in carnivorous and herbivorous animals under effect of environment factors.] 61
31509653 2017
41
Pathophysiology of cerebrotendinous xanthomatosis. 61
27840382 2016
42
Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion. 61
25941960 2016
43
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis. 61
27771677 2016
44
Anesthetic Management in a Child With Niemann-Pick Disease. 61
28203333 2016
45
Analysis of lipid profile in lipid storage myopathy. 61
27428459 2016
46
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells. 61
27378690 2016
47
Spectrum of Inherited Metabolic Disorders in Pakistani Children Presenting at a Tertiary Care Centre. 61
27353988 2016
48
Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease. 61
26922712 2016
49
Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation. 61
26600210 2016
50
Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature. 61
27182150 2016
51
Uncovering biologically significant lipid isomers with liquid chromatography, ion mobility spectrometry and mass spectrometry. 61
26734689 2016
52
[THE EXCESS OF PALMITIC FATTY ACID IN FOOD AS MAIN CAUSE OF LIPOIDOSIS OF INSULIN-DEPENDENT CELLS: SKELETAL MYOCYTES, CARDIO-MYOCYTES, PERIPORTAL HEPATOCYTES, KUPFFER MACROPHAGES AND B-CELLS OF PANCREAS]. 61
27455558 2016
53
[CHARACTERISTIC OF APOPTOSIS OF CORONARY ARTERY CELLS WITH ATHEROSCLEROTIC LESIONS]. 61
30296042 2016
54
Gaucher Disease: Clinical, Biological and Therapeutic Aspects. 61
26588331 2016
55
Hereditary Cystinosis Detected by CD68 Staining of the Bone Marrow Biopsies of 2 Siblings. 61
25153500 2015
56
Hypophagia and metabolic adaptations in mice with defective ATGL-mediated lipolysis cause resistance to HFD-induced obesity. 61
26508640 2015
57
Beyond vascular inflammation--recent advances in understanding atherosclerosis. 61
26100516 2015
58
A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation. 61
26024245 2015
59
Chanarin-Dorfman syndrome: A case report and review of the literature. 61
26520282 2015
60
Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency. 61
25556768 2015
61
Chronic Liver Diseases in Children: Clinical Profile and Histology. 61
26393179 2015
62
[Fatty acid composition in the carotid artery tissue in the atheromatosis and lipid spot areas. Universal pathogenesis of the atherosclerosis syndrome and its symptom of intimal atheromatosis]. 61
26852590 2015
63
Another TLO in the Wall: Education and Control of T Cells in Atherosclerotic Arteries. 61
26084016 2015
64
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population. 61
26937392 2015
65
Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A. 61
25363365 2015
66
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings. 61
25956450 2015
67
[Research advances in diagnosis and therapy of Niemann-Pick disease type C]. 61
26014711 2015
68
A myopathy with unusual features caused by PNPLA2 gene mutations. 61
25287355 2015
69
Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation. 61
25682902 2015
70
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse. 61
25512002 2015
71
Cellular basis of secondary infections and impaired desquamation in certain inherited ichthyoses. 61
25565224 2015
72
Inborn errors of cytoplasmic triglyceride metabolism. 61
25300978 2015
73
[MAJOR MOLECULAR AND CELLULAR MANIFESTATIONS OF ATHEROSCLEROSIS]. 61
26495521 2015
74
The natural history of cerebellar degeneration of Niemann-Pick C mice monitored in vitro. 61
24889722 2014
75
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. 61
25424010 2014
76
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. 61
24836204 2014
77
The important role of epidermal triacylglycerol metabolism for maintenance of the skin permeability barrier function. 61
23928127 2014
78
Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy. 61
24332944 2014
79
Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy. 61
27896096 2014
80
New Niemann-Pick type C1 gene mutation associated with very severe disease course and marked early cerebellar vermis atrophy. 61
23112236 2013
81
PNPLA2 mutation: a paediatric case with early onset but indolent course. 61
24074500 2013
82
Characteristic scattergram of white blood cells obtained using the Pentra MS CRP hematology analyzer in a patient with neutral lipid storage disease. 61
24370872 2013
83
Cardiac oxidative stress in a mouse model of neutral lipid storage disease. 61
23867907 2013
84
From blood smear to lipid disorder: a case report. 61
23042024 2013
85
Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. 61
23824421 2013
86
Symptomatic lipid storage in carriers for the PNPLA2 gene. 61
23232698 2013
87
Pro-inflammatory genetic markers of atherosclerosis. 61
23591672 2013
88
A case of Gaucher's disease progressing to liver cirrhosis. 61
23715368 2013
89
Functional cardiac lipolysis in mice critically depends on comparative gene identification-58. 61
23413028 2013
90
Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy. 61
23449549 2013
91
Chanarin-dorfman syndrome with multi-system involvement in two siblings. 61
24385758 2013
92
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. 61
23333026 2013
93
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 61
23146629 2013
94
Gaucher's Disease, an Unusual Cause of Massive Splenomegaly, a Case Report. 61
24575292 2013
95
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. 61
22718274 2013
96
Olfactory deficits in Niemann-Pick type C1 (NPC1) disease. 61
24391715 2013
97
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function. 61
22990388 2012
98
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. 61
22832386 2012
99
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. 61
22964912 2012
100
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. 61
22676771 2012
101
Neutral lipid storage disease with unusual presentation: report of three cases. 61
21575048 2012
102
Cancer and sphingolipid storage disease therapy using novel synthetic analogs of sphingolipids. 61
22387097 2012
103
Blocked muscle fat oxidation during exercise in neutral lipid storage disease. 61
22491199 2012
104
Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation. 61
22245374 2012
105
Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene. 61
21958693 2012
106
The bile steroid chenodeoxycholate is a potent antagonist at NMDA and GABA(A) receptors. 61
22155097 2012
107
[Status of nutrition and cell immunity in sportsmen-weightlifters]. 61
22888678 2012
108
Bilateral Achilles tendon enlargement. 61
22146219 2011
109
Anterior tongue reduction surgery for paediatric macroglossia. 61
21914247 2011
110
Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients. 61
27264587 2011
111
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. 61
21544567 2011
112
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. 61
21979053 2011
113
2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis. 61
22018287 2011
114
The anesthetic management of a patient with Dorfman-Chanarin syndrome. 61
22428507 2011
115
Reduced expression of adipose triglyceride lipase enhances tumor necrosis factor alpha-induced intercellular adhesion molecule-1 expression in human aortic endothelial cells via protein kinase C-dependent activation of nuclear factor-kappaB. 61
21828047 2011
116
ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1. 61
21857651 2011
117
Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis. 61
21627786 2011
118
Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. 61
21695016 2011
119
Lipid storage myopathy. 61
21046290 2011
120
A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis. 61
21576934 2011
121
Niemann-Pick type C fibroblasts have a distinct microRNA profile related to lipid metabolism and certain cellular components. 61
21075073 2010
122
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. 61
20370797 2010
123
Molecular imaging in atherosclerosis. 61
20306036 2010
124
Niemann - Pick disease associated with hemophagocytic syndrome. 61
27263747 2010
125
Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population. 61
21170305 2010
126
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. 61
21073837 2010
127
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges. 61
20691590 2010
128
Cerebrotendinous xanthomatosis associated with immune thrombocytopenia. 61
22791847 2010
129
Invariant natural killer T cells: linking inflammation and neovascularization in human atherosclerosis. 61
21061446 2010
130
State of the art in muscle lipid diseases. 61
21314018 2010
131
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. 61
21045422 2010
132
Disruption of the Arabidopsis CGI-58 homologue produces Chanarin-Dorfman-like lipid droplet accumulation in plants. 61
20876112 2010
133
[Clinical significance of histopathologic and ultrastructural pathologic examination in etiological diagnosis of infantile cholestatic diseases]. 61
20943083 2010
134
MR spectroscopy detects lipid peaks in cerebrotendinous xanthomatosis. 61
20150306 2010
135
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. 61
20471263 2010
136
Lipolysis in adipocytes. 61
20025992 2010
137
Improvement in lipid and protein trafficking in Niemann-Pick C1 cells by correction of a secondary enzyme defect. 61
20412078 2010
138
Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series. 61
20056559 2010
139
Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58). 61
20023287 2010
140
Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome. 61
20022472 2010
141
Characterization of desnutrin functional domains: critical residues for triacylglycerol hydrolysis in cultured cells. 61
19692632 2010
142
[Lipoid pneumonia - an underestimated syndrome]. 61
20024881 2010
143
Type-3 Gaucher disease with bilateral necrosis of the neck of femur: a case report. 61
20072680 2009
144
Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. 61
19696711 2009
145
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. 61
19401457 2009
146
[Morphological manifestations of the pleiotropic effect of statins on the human aorta in atherosclerosis]. 61
19824425 2009
147
Obesity, inflammation, and atherosclerosis. 61
19399028 2009
148
Effects of tetrazanbigen on the protein expression in human hepatocellular carcinoma cell line QGY-7701. 61
19513611 2009
149
Jordans' anomaly in a new neutral lipid storage disease. 61
18429052 2009
150
Clinical and genetic analysis of lipid storage myopathies. 61
19208393 2009
151
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. 61
18952067 2008
152
CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes. 61
18832586 2008
153
Effect of host cell lipid metabolism on alphavirus replication, virion morphogenesis, and infectivity. 61
18845681 2008
154
An unusual presentation of Tangier disease with gallbladder involvement. 61
19317282 2008
155
A fluorescent glycolipid-binding peptide probe traces cholesterol dependent microdomain-derived trafficking pathways. 61
18716682 2008
156
The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. 61
18445677 2008
157
[Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon]. 61
18483801 2008
158
Cerebrotendinous xanthomatosis: neuropathological findings. 61
18458861 2008
159
The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding. 61
18445597 2008
160
Gaucher disease: review of the literature. 61
18466035 2008
161
Renal involvement as a rare complication of Dorfman-Chanarin syndrome: a case report. 61
18577036 2008
162
Clinical and genetic characterization of Chanarin-Dorfman syndrome. 61
18339307 2008
163
Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. 61
18245815 2008
164
[Effect of statins on content of lipids in intima of the human aorta data of computer morphometry]. 61
18537795 2008
165
Toll-like receptors in atherosclerosis. 61
18031244 2007
166
The toll of Toll-like receptors, especially toll-like receptor 2, on murine atherosclerosis. 61
18220700 2007
167
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. 61
17657808 2007
168
Cerebrotendinous xanthomatosis: a case report. 61
17718147 2007
169
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. 61
17187067 2007
170
The adult form of Niemann-Pick disease type C. 61
17003072 2007
171
Rickets with Dorfman-Chanarin syndrome. 61
17095855 2007
172
Acid ceramidase and human disease. 61
17064658 2006
173
Cerebrotendinous xanthomatosis: need for early diagnosis. 61
17050932 2006
174
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). 61
16741516 2006
175
Infrared imaging microscopy of bone: illustrations from a mouse model of Fabry disease. 61
16697974 2006
176
[Ophthalmic manifestations of lipoid proteinosis]. 61
16710149 2006
177
Glycolipid receptor depletion as an approach to specific antimicrobial therapy. 61
16630247 2006
178
[Inflammatory cell reaction and mast cells in aortic intima and pulmonary artery of humans at early stages of atherosclerosis]. 61
16752504 2006
179
Inflammation and cardiovascular disease mechanisms. 61
16470012 2006
180
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. 61
16278884 2005
181
Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome. 61
16181472 2005
182
Early pulmonary involvement in Niemann-Pick type B disease: lung lavage is not useful. 61
15965955 2005
183
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. 61
15944902 2005
184
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. 61
15967942 2005
185
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2]. 61
15808435 2005
186
Substrate reduction therapy for lysosomal storage diseases. 61
15895716 2005
187
Cytochemical analysis of pancreatic islet lipoapoptosis: hyperlipidemia-induced cytoinvolution following expression of the diabetes (db/db) mutation. 61
15860929 2005
188
Pathological cholesterol metabolism fails to modify electrophysiological properties of afflicted neurones in Niemann-Pick disease type C. 61
15652985 2005
189
Elevated endosomal cholesterol levels in Niemann-Pick cells inhibit rab4 and perturb membrane recycling. 61
15292453 2004
190
Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder. 61
15193296 2004
191
Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients. 61
15130691 2004
192
Perturbed myelination process of premyelinating oligodendrocyte in Niemann-Pick type C mouse. 61
15217094 2004
193
Footprints of atherosclerotic coronary heart disease in children. 61
15058151 2004
194
[Inflammatory-immunological cellular reaction in intima of the aorta and pulmonary artery and development of atherosclerosis]. 61
15029135 2004
195
A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C. 61
14629784 2003
196
Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. 61
14708602 2003
197
Fabry disease in a renal allograft. 61
12859541 2003
198
Specific cardiomyopathy caused by multisystemic lipid storage in Jordans' anomaly. 61
12879951 2003
199
Cerebrotendinous Xanthomatosis 61
20301583 2003
200
Hepato-splenic lymphoma: a rare entity mimicking acute hepatitis: a case report. 61
12800262 2003
201
Identification of a pharmaceutical compound that partially corrects the Niemann-Pick C phenotype in cultured cells. 61
12364555 2002
202
Avascular necrosis of the femoral head in a patient with Fabry's disease: identification of ceramide trihexoside in the bone by delayed-extraction matrix-assisted laser desorption ionization-time-of-flight mass spectrometry. 61
12124877 2002
203
Neutral sphingomyelinase 1 deficiency in the mouse causes no lipid storage disease. 61
11997500 2002
204
Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells. 61
12070301 2002
205
Inflammation and atherosclerosis. 61
11877368 2002
206
Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. 61
11829492 2002
207
Hepatosplenomegaly and progressive neurological symptoms - Late manifestation of Niemann-Pick disease type C - a case report -. 61
11778157 2001
208
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. 61
11545687 2001
209
Cerebrotendinous xanthomatosis. 61
11464194 2001
210
Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases. 61
11345203 2001
211
Differences in hepatic levels of intermediates in bile acid biosynthesis between Cyp27(-/-) mice and CTX. 61
11181760 2001
212
Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features. 61
11251597 2001
213
Genetic analysis of phytosterolaemia. 61
11286381 2001
214
Pulmonary involvement in Niemann-Pick disease: case report and literature review. 61
11192962 2000
215
Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector. 61
10918495 2000
216
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. 61
10775536 2000
217
Pulmonary-specific expression of SP-D corrects pulmonary lipid accumulation in SP-D gene-targeted mice. 61
10666121 2000
218
Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. 61
10745395 2000
219
Niemann-Pick Disease Type C 61
20301473 2000
220
Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils. 61
10721832 2000
221
A cause of fatty liver: neutral lipid storage disease with ichthyosis--electron microscopic findings. 61
10573364 1999
222
Expression of Niemann-Pick type C transcript in rodent cerebellum in vivo and in vitro. 61
10482798 1999
223
The frequency of lysosomal storage diseases in The Netherlands. 61
10480370 1999
224
[Features of atherosclerosis in the ascending human aorta and the link between its development and the main risk factors of ischemic heart disease in patients after aortocoronary shunting]. 61
10476341 1999
225
Anomalous enantioselectivity in the sharpless asymmetric dihydroxylation reaction of 24-nor-5beta-cholest-23-ene-3alpha,7alpha,12alpha-triol: synthesis of substrates for studies of cholesterol side-chain oxidation. 61
10443973 1999
226
Cholestanol induces apoptosis of cerebellar neuronal cells. 61
10066446 1999
227
Infrared Spectroscopic Imaging of the Biochemical Modifications Induced in the Cerebellum of the Niemann-Pick type C Mouse. 61
23015163 1999
228
Surfactant protein-D regulates surfactant phospholipid homeostasis in vivo. 61
9774472 1998
229
[Effects of modifications of lipoproteins by water soluble forms of lineoleic-hydroxamic acid on biochemical markers of development of atherosclerosis]. 61
9848203 1998
230
Suppressive effect of simvastatin on intramural small coronary arterial lesions in cholesterol-fed rabbits. 61
9523544 1998
231
Erdheim-Chester disease: radiographic findings in five patients. 61
9554002 1998
232
Dorfman-Chanarin syndrome: morphologic studies and presentation of new cases. 61
9504676 1998
233
The antiatherogenic effect of nifedipine on intramural small coronary arterial lesions in cholesterol-fed rabbits. 61
9456164 1998
234
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. 61
9469583 1998
235
Neutral lipid storage disease with fatty liver and cholestasis. 61
9360211 1997
236
Calcific chronic lateral epicondylitis: a histological and ultrastructural study. 61
9397583 1997
237
[Dorfman-Chanarin syndrome--a neutral lipid storage disease]. 61
9441170 1997
238
Neutral lipid storage disease--response to dietary intervention. 61
9301368 1997
239
Lipid storage disease. 61
9241629 1997
240
[Cerebrotendinous xanthomatosis: utility of nuclear magnetic resonance image in the follow-up and response to treatment]. 61
9064170 1996
241
[Mediacalcinosis of the aorta (pathomorphology and pathogenesis of arterial calcification and its relationship to atherosclerosis)]. 61
9005822 1996
242
[Influence of gypenoside on serum lipoprotein and atherosclerosis in hyperlipidaemia animals]. 61
9772651 1996
243
Chronic diarrhoea as a dominating symptom in two children with cerebrotendinous xanthomatosis. 61
8863874 1996
244
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. 61
8663220 1996
245
Inherited ichthyoses: a review of the histology of the skin. 61
9025839 1996
246
A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family. 61
8728324 1996
247
Vacuolar changes in neuromuscular disorders: a morphometric study. 61
8851479 1995
248
Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells. 61
8747852 1995
249
The turnover of cytoplasmic triacylglycerols in human fibroblasts involves two separate acyl chain length-dependent degradation pathways. 61
7592952 1995
250
[Subpopulations of lymphocytes and monocytes/macrophages at the early stages of human aorta atherosclerosis]. 61
8526761 1995
251
[Prophylactic and correcting effect of polyethylene oxide Polyox WSR-301 in experimental lipoidosis in rats]. 61
8589379 1995
252
[Monocytes/macrophages and lipidosis of the human aortic intima in atherosclerosis]. 61
7677580 1995
253
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family. 61
7860076 1995
254
[The effect of medicinal leeches on the rheological properties of rat blood under normal conditions and upon development of experimental lipoidosis]. 61
7735101 1995
255
The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature. 61
7484100 1995
256
Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics. 61
7977352 1994
257
Inverse relationship between plasma cholestanol concentrations and bile acid synthesis in sitosterolemia. 61
7852865 1994
258
Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report. 61
7955510 1994
259
DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent. 61
7916532 1994
260
Cerebrotendinous xanthomatosis. 61
8044416 1994
261
Lipidosis with sea-blue histiocytes. Report of two siblings with lung involvement. 61
8016915 1994
262
Neutral lipid storage disease. Case report and lipid studies. 61
8186119 1994
263
Neutral lipid storage disease co-existing with ichthyosiform dermatosis. 61
8181512 1994
264
Case report: computed tomography findings in lipoid proteinosis: report of two cases. 61
8130987 1994
265
Cellular uptake and catabolism of high-density-lipoprotein triacylglycerols in human cultured fibroblasts: degradation block in neutral lipid storage disease. 61
8110183 1994
266
Laboratory tests for ichthyosis. 61
7511491 1994
267
Extremely high HDL levels in a patient with multiple symmetric lipomatosis. 61
8143360 1993
268
Use of pyrenemethyl laurate for fluorescence-based determination of lipase activity in intact living lymphoblastoid cells and for the diagnosis of acid lipase deficiency. 61
8397511 1993
269
Cytoplasmic triacylglycerols and cholesteryl esters are degraded in two separate catabolic pools in cultured human fibroblasts. 61
8348969 1993
270
Congenital ichthyosis with restrictive dermopathy and Gaucher disease: a new syndrome with associated prenatal diagnostic and pathology findings. 61
8469493 1993
271
Type C Niemann-Pick disease in a boxer dog. 61
8460536 1993
272
[Lipid metabolism and atherogenesis in tuberculosis in experimental animals]. 61
8127844 1993
273
Sitosterolemia. 61
1431587 1992
274
Ichthyoses and hyperkeratotic disorders. 61
1617817 1992
275
[Cerebrotendinous xanthomatosis]. 61
1333699 1992
276
Adult onset lysosomal storage disease in a Tibetan terrier: clinical, morphological and biochemical studies. 61
1471473 1992
277
Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism. 61
2001430 1991
278
[Cerebral MRT in x chromosome linked adrenoleukodystrophy]. 61
1797249 1991
279
Computed tomography of tendinous xanthomata in cerebrotendinous xanthomatosis. 61
2020870 1991
280
Biochemical abnormalities in cerebrotendinous xanthomatosis. 61
1817043 1991
281
Neutral lipid storage disease with ichthyosis: serum apolipoprotein levels and cholesterol metabolism in monocyte-derived macrophages. 61
1909403 1991
282
Cerebrotendinous xanthomatosis with cholestanolaemia--involvement of five individuals in a Malay family. 61
2152046 1990
283
Ichthyosis, mental retardation, and asymptomatic spasticity. A new neurocutaneous syndrome with normal fatty alcohol:NAD+ oxidoreductase activity. 61
2241202 1990
284
Lysosomal acid lipase deficiency in rats: lipid analyses and lipase activities in liver and spleen. 61
2246613 1990
285
Genetic lipid storage disease with lysosomal acid lipase deficiency in rats. 61
2170747 1990
286
Spectroscopic MRI: a tool for the evaluation of systemic lipid storage disease. 61
2392038 1990
287
Pseudo-osteomyelitis in Gaucher's disease. 61
2671874 1989
288
Chenodeoxycholic acid normalizes elevated lipoprotein secretion and catabolism in cerebrotendinous xanthomatosis. 61
2760539 1989
289
[The sea blue histiocyte syndrome: a case report]. 61
2519167 1989
290
A general overview of amiodarone toxicity: its prevention, detection, and management. 61
2652188 1989
291
Multifocal verruciform xanthoma of the upper aerodigestive tract in a child with a systemic lipid storage disease. 61
2539022 1989
292
[Sphingomyelinase activity in a patient with Niemann-Pick disease]. 61
2545015 1989
293
Acid phospholipase A1 in liver--a brief survey. 61
2648056 1989
294
[The age-related dynamics of the distribution of prelipid changes and lipoidosis in the human aortic intima]. 61
2629661 1989
295
[Pathomorphological criteria of anti-atherosclerotic effect of plant saponins in an experiment]. 61
3167195 1988
296
Anti-amiodarone antibodies: detection and relationship to the development of side effects. 61
3400695 1988
297
Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome). 61
3205858 1988
298
Ichthyosis and neutral lipid storage disease. 61
3354610 1988
299
[The effect of cholesterol oxidation products on the disruption of lipid metabolism and atherosclerotic damage of the aorta in rabbits]. 61
3233067 1988
300
Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts. 61
3139924 1988
301
Value of looking at leukocytes in every case of ichthyosis. 61
3224731 1988
302
[Lipoidosis of the glomerular mesangium with accumulation of cholesterol. A novel hereditary disease]. 61
3237300 1988
303
Metabolism of the cholestanol precursor cholesta-4,6-dien-3-one in different tissues. 61
3676336 1987
304
Increased plasma bile alcohol glucuronides in patients with cerebrotendinous xanthomatosis: effect of chenodeoxycholic acid. 61
3668385 1987
305
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses. 61
3037847 1987
306
Low-density lipoprotein apheresis and regression of atherosclerotic plaque in vitro. 61
3800702 1986
307
Effect of cyclic AMP on lipid accumulation and metabolism in human atherosclerotic aortic cells. 61
2430588 1986
308
[2 cases of acquired lipoidosis]. 61
3770425 1986
309
[Lipid storage disease similar to Wolman's disease in humans in the fox terrier]. 61
3738899 1986
310
[Significance of atherosclerotic risk factors in the development of preatherosclerotic changes in the human aorta]. 61
3961688 1986
311
[Fabry disease, a disease with rheumatic aspects: radiology of soft tissue and bone changes in the hand]. 61
3085380 1986
312
Neurological mutation characterized by dysmyelination in NCTR-Balb/C mouse with lysosomal lipid storage disease. 61
4031853 1985
313
Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. 61
4026335 1985
314
Ichthyosis and neutral lipid storage disease. 61
3993689 1985
315
Postlathyric fibroelastosis of the rat aorta related to topical factors of experimental atherosclerosis. 61
4001031 1985
316
Synthesis and structure of 26 (or 27)-nor-5 beta-cholestane-3 alpha,7 alpha,12 alpha,24S,25 xi-pentol isolated from the urine and feces of a patient with sitosterolemia and xanthomatosis. 61
2985722 1985
317
Lipid storage disease: Part II. Ultrastructural pathology of lipid storage cells in sphingolipidoses. 61
2992227 1985
318
[Ultrastructural findings in secondary lipoidosis of the cornea]. 61
3889473 1985
319
Lipids in cells of atherosclerotic and uninvolved human aorta. I. Lipid composition of aortic tissue and enzyme-isolated and cultured cells. 61
3967748 1985
320
[Intimal lipoidosis of the coronary arteries of newborn infants and infants in the 1st year of life]. 61
4074140 1985
321
[Early stages of atherosclerosis. The morphogenesis of lipid spots in the aorta of children]. 61
4082016 1985
322
Adrenoleukodystrophy in Israel: a genetic, clinical and biochemical study. 61
6097565 1984
323
Erdheim-Chester disease. 61
6440238 1984
324
The airway of patients with a lipid storage disease. 61
6517292 1984
325
[Cutaneous-mucous hyalinosis (Urbach-Wiethe disease). Histologic and ultrastructural study of a case]. 61
6210098 1984
326
[Behavior of atheromatous vessel segments during pressure application of 5 kg/cm2 for various periods of time]. 61
6236624 1984
327
Erdheim-Chester disease: a distinct lipoidosis or part of the spectrum of histiocytosis? 61
6608118 1984
328
[Decrease in the lipid content of human atherosclerotic aorta cells as affected by compounds increasing the intracellular level of cyclic AMP]. 61
6199053 1984
329
Cutaneous pigmentation secondary to amiodarone therapy. 61
6639112 1983
330
[Content of lipids in cells, isolated from normal and atherosclerotically-altered portions of the human aorta]. 61
6649536 1983
331
Lipid storage disease: Part I. Ultrastructure of xanthoma cells in various xanthomatous diseases. 61
6650173 1983
332
[Effect of dibutyryl-cAMP on the cholesterol ester content in human atherosclerotic aorta cells]. 61
6303477 1983
333
[Atherogenic changes in lipid metabolism caused by alcohol]. 61
6842956 1983
334
[Combined histochemical and histostereometric evaluation of the morphogenesis of human aortic atherosclerotic plaques]. 61
6625940 1983
335
Lysosome lipid storage disorder in NCTR-BALB/c mice. II. Morphologic and cytochemical studies. 61
6765732 1982
336
Endomyocardial biopsy in infants and children: technique; indications and results. 61
7117283 1982
337
The liver in lipid storage disease: biochemical basis of pathogenesis and clinical features. 61
6810410 1982
338
Drug induced ocular lipoidosis. 61
6979822 1982
339
[Morphological and biochemical characteristics of aortic lipoidosis in children]. 61
7180161 1982
340
[Fibrillar protein content of the vascular wall of children]. 61
7082200 1982
341
Electron microscopic studies in lipid storage disease. 61
6266977 1981
342
[Behaviour of the aortic lipoidosis in rats twenty months after stopping of an hyperlipidic diet (author's transl)]. 61
6261372 1981
343
Amiodarone keratopathy: drug-induced lipid storage disease. 61
6258544 1981
344
Ultrastructural observations in ponies after treatment with monensin. 61
7224315 1981
345
Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome. 61
7432384 1980
346
Liver in cerebrotendinous xanthomatosis (CTX)--a histochemical and EM study of four cases. 61
18788163 1980
347
[Behaviour of the aortic lipoidosis in rats twenty months after the withdrawal of an hyperlipidic diet (author's transl)]. 61
6999428 1980
348
Corneal lipoidosis in a dog with bilateral thyroid carcinoma. 61
7385579 1980
349
[Lipid level in sudden cardiac death (a biochemical and morphological study)]. 61
7447742 1980
350
[Atherosclerosis of the major vessels of the neck and circle of Willis in different forms of endemic goiter (in the Fergana Valley)]. 61
6450503 1980
351
Dysplasia of the lymphatics with lymphoedema, generalized lymphangiectasis, chylothorax and "pseudo-storage-disease". 61
529825 1979
352
[Morphological and histochemical behavior of arterial tissue in normal and spontaneously hypo- or hypercholesterolemic rats on a normal or hyperlipidic diet]. 61
537828 1979
353
Two populations of type I fibres in striated muscle from a case of neutral lipid storage disease. 61
521823 1979
354
Fabry's disease. Primary diagnosis by electron microscopy. 61
119441 1979
355
Nephrogenic diabetes insipidus in a dog with renal medullary lesions. 61
500424 1979
356
Effect of chlorphentermine on hormone content and function of the adrenal cortex in rats. 61
220166 1979
357
[Lipoidosis in mice]. 61
428434 1979
358
[Urbach-Wiethe syndrome: hyalinosis and lipoidosis of the skin and mucous membranes as a neuroectodermosis]. 61
583293 1979
359
[Frequency, etiological factors and the morphological characteristics of myocardial infarct in youth]. 61
524874 1979
360
AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2. 61
99746 1978
361
[Electromyographic study with repeated stimulation of a case of lipid storage disease with carnitine deficiency]. 61
741160 1978
362
[An infant patient with lipid storage disease (author's transl)]. 61
682834 1978
363
Morphological findings in spontaneously hypertensive rats in comparison with findings after experimental renal hypertension. 61
744208 1978
364
Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes. 61
900082 1977
365
[Action of chlorphentermine on the hydrolysis of phosphatidyl choline by phospholipase A2 (author's transl)]. 61
849774 1977
366
L-5-hydroxytryptophan in treatment of several different syndromes in which myoclonus is prominent. 61
1086988 1976
367
[Sphingomyelin lipoidosis (author's transl)]. 61
979967 1976
368
A light and electron microscopical study of glomerular lipoidosis in beagle dogs. 61
993377 1976
369
Adrenoleukodystrophy with disease of the eye and optic nerve. 61
961799 1976
370
[Current aspects of exogenous pulmonary lipoidosis in adults. Review of the recent literature apropos of an exemplary case]. 61
1008390 1976
371
[Cerebroside lipoidosis (Gaucher's disease) in children]. 61
972826 1976
372
[Comparative characteristics of arteriosclerosis of the aorta and arteries of the limbs (epidemiological study)]. 61
1022895 1976
373
Ocular movements in lipid storage disease. Reports of juvenile Gaucher disease and the ophthalmoplegic lipidosis. 61
953203 1976
374
Morphological features in a neutral lipid storage disease. 61
1165295 1975
375
Neutral-lipid storage disease: a new disorder of lipid metabolism. 61
1139147 1975
376
[Arterial elastin in atherosclerosis and hypertensive disease]. 61
1180699 1975
377
[Uncommonly abundant symptomatology of angiokeratoma corporis diffusum Fabry--a lipid storage disease]. 61
803319 1975
378
Morphological effects of rapeseed oil in rats. I. Short-term studies. 61
1062116 1975
379
Human beta-D-N-acetylhexosaminidases A and B: expression and linkage relationships in somatic cell hybrids. 61
4524661 1974
380
Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. 61
4360855 1974
381
[Intravital tellurium labeling of lysosomal storage organoids in exogenous lipoidosis]. 61
4365751 1974
382
[Plasmatic lipoidosis in a 3 and one-half-month-old child]. 61
4849410 1974
383
[Reproduction of experimental hyperlipemia and lipoidosis of the arteries in rats]. 61
4659663 1972
384
[Splenic lipoidosis with dark blue histiocytes due to ceroid accumulation]. 61
4116708 1972
385
[Cerebral glycolipid analysis in diverse cases of lipoidosis]. 61
5068746 1972
386
Glycosphingolipid levels in an unusual neurovisceral storage disease characterized by lactosylceramide galactosyl hydrolase deficiency: lactosylceramidosis. 61
5016302 1972
387
[An infantile-juvenile, subchronically progressive lipoidosis of the sphingomyelinoses (Niemann-Pick) form--a new type? Clinical, pathohistological, electron microscopic and biochemical studies]. 61
5047097 1972
388
[Specific lipoidosis caused by DH(diethylaminoethoxyhexestrol)-biochemical and pathological changes]. 61
5141958 1971
389
Adult splenic lipoidosis resembling Niemann-Pick disease. An electron microscopic study. 61
5121602 1971
390
Progressive paresis of vertical gaze in lipid storage disease. 61
5106253 1971
391
[Development of aortic lipoidosis in rabbits in repeated starvation]. 61
5146589 1971
392
[The effect of manganese on the development of alimentary hypercholesterolemia and lipoidosis of the aorta]. 61
5141596 1971
393
[Lipoidosis of the external sheath of the eye related to age]. 61
5120801 1971
394
[Experimental lipoidosis of the aorta in rabbits with endogenous hypercholesteremia and without anisotropic adiposis of the liver]. 61
5564690 1971
395
[Effect of atromide on the endogenously-induced experimental hypercholesteremia and development lipoidosis of the aorta in rabbits]. 61
5501510 1970
396
Lipid storage disease in a Siamese cat. 61
5461697 1970
397
[Chemodiagnosis of metachromatic leukodystrophy (sulfatide lipoidosis)]. 61
5344616 1969
398
[The effect of malic acid and alkaline and alkaline-earth metal carbonates on the development of alimentary hypercholesterolemia and lipoidosis of the aorta in rabbits]. 61
5742304 1968
399
EEG in cases of cerebral lipoidosis. 61
4174030 1968
400
[Gall bladder lipoidosis (personal experience)]. 61
5721701 1968
401
Fabry's disease (glycolipid lipoidosis). 61
5303235 1968
402
[New classification of cerebral lipoidosis]. 61
4874720 1968
403
Biochemical studies on two cases of neuronal lipid storage disease. 61
5688475 1968
404
[Ontogenic peculiarities of alimentary hypercholesteremia and lipoidosis of the aorta in rabbits]. 61
5262076 1967
405
[Lipoidosis--with special reference to metachromatic leucodystrophy and Tay-Sachs disease]. 61
4868956 1967
406
[The effect of cooling on the development of experimental lipoidosis of the coronary arteries]. 61
5623289 1967
407
[Vesicular lipoidosis. Histopathology and etiopathology]. 61
5615203 1967
408
[Surgical treatment of gallbladder lipoidosis]. 61
5615205 1967
409
[Sulfatide lipoidosis in childhood]. 61
5592530 1967
410
[Vesicular lipoidosis. Clinical, radiologic and statistical study]. 61
5615204 1967
411
[On the reporduction of an experimental model (noncholesterol) of aortic lipoidosis in rabbits]. 61
5604611 1967
412
Clinical and electron microscopic studies of a case of glycolipid lipoidosis (Fabry's disease). 61
6016885 1967
413
[Proposal of a model for testing drugs with regard to their effectiveness in abolishing interstitial lipoidosis]. 61
5591494 1967
414
[On the problem of the relationship between the activity of lipolytic enzymes and lipoidosis of the aortic wall]. 61
5253870 1967
415
[Peracute osseous disease course in a case of cerebroside lipoidosis (Gaucher's disease) in an adult]. 61
5620592 1967
416
[On a case of poliostotic polycystic osteopathy: lipoidosis?]. 61
5919270 1966
417
Ultrastructural changes of the liver under experimental lipoidosis. 61
5982047 1966
418
Lipid storage disease. 61
5902863 1966
419
[The effect of carbohydrate metabolism disturbances on the wall of the aorta and on the development in it of alimentary lipoidosis in rabbits]. 61
5965612 1966
420
Influence of rabbit plasma on cellular lipoidosis in aortic culture of plasma donors. 61
5939680 1966
421
[Studies on the phytol metabolism in lipoidosis heredopathia atactica polyneuritiformis (Refsum's syndrome). The transformation of 3H-phytol into the 3,7,11,15-tetramethylhexadecanoic acid (phytanic acid) of the plasma lipoid fractions]. 61
4163289 1965
422
[Microbiological studies on lipoidosis of the gallbladder mucosa]. 61
5899425 1965
423
[Primary lipoidosis in a sibship]. 61
5861756 1965
424
[On primary systemic lipoidosis]. 61
5871349 1965
425
[LETTER-SIEVE DISEASE (A NEOPLASTIC FORM WITH LIPOIDOSIS)]. 61
14321888 1965
426
[On lipoidosis of the left coronary artery in children]. 61
5865148 1965
427
INFLUENCE OF SOME FACTORS ON LIPOIDOSIS AND CELL PROLIFERATION IN AORTA TISSUE CULTURES OF ADULT RABBITS. 61
14253391 1965
428
[INTRAUTERINE DISORDER OF CHOLESTEROL METABOLISM AND DEVELOPMENT OF LIPOIDOSIS IN THE FETUS (EXPERIMENTAL RESEARCH)]. 61
14318152 1964
429
[EXPERIMENTAL AND CLINICAL OBSERVATIONS ON LIPOIDOSIS OF THE GALLBLADDER]. 61
14311399 1964
430
[EFFECT OF CARBON TETRACHLORIDE INDUCED HEPATIC LESION ON THE DEVELOPMENT OF EXPERIMENTAL LIPOIDOSIS OF THE AORTA CAUSED BY CHOLESTEROL IN RABBITS]. 61
14299715 1964
431
[TAY-SACHS DISEASE AND THE LATE FORMS OF AMAUROTIC IDIOCY IN THE FRAMEWORK OF CEREBRAL LIPOIDOSIS]. 61
14181267 1964
432
[CEROID IN LIPOIDOSIS AND ATHEROSCLEROSIS OF THE AORTA. MORPHOLOGY AND HISTOCHEMISTRY]. 61
14213225 1964
433
[ON THE MORPHOLOGY AND HISTOCHEMISTRY OF FATS IN LIPOIDOSIS OF THE AORTA]. 61
14213224 1964
434
[CONSIDERATIONS ON THE RADIOLOGICAL DIAGNOSIS OF CIRCUMSCRIBED CHOLECYSTIC LIPOIDOSIS]. 61
14167351 1964
435
VACUOLATED LYMPHOCYTES IN THE CONJUNCTIVAL FLUID IN JUVENILE AMAUROTIC IDIOCY (SPIELMEYER-VOGT'S LIPOIDOSIS). 61
14134413 1964
436
[EFFECT OF VITAMIN D2 ON THE DEVELOPMENT OF LIPOIDOSIS OF THE AORTA AND CORONARY ARTERIES IN CHILDREN]. 61
14182510 1964
437
SHORT-TERM AORTIC LIPOIDOSIS IN THE RAT: EVALUATION OF SOME FACTORS RELATED TO THE EXPERIMENTAL PROCEDURE. 61
14051793 1963
438
DELAYED SPONTANEOUS REGRESSION OF EXPERIMENTAL AORTIC LIPOIDOSIS IN THE RAT. 61
14051794 1963
439
[LIPOIDOSIS OF THE GALLBLADDER AND PAIN IN THE CYSTIC DUCT]. 61
14049390 1963
440
[LIPOIDOSIS OF THE AORTA AND LEFT CORONARY ARTERY IN CHILDREN]. 61
14148482 1963
441
[COMPARATIVE HISTOCHEMICAL AND ELECTRON MICROSCOPIC STUDIES OF AORTIC CHANGES IN EXPERIMENTAL LIPOIDOSIS]. 61
14168388 1963
442
[General introduction and definition of the limits of lipoidosis]. 61
13924469 1962
443
[The pathogenesis of experimental aortic lipoidosis in rats: enzyme histochemistry and electron microscope observations]. 61
13907000 1962
444
Lipoidosis cutis et mucosae (lipoid proteinosis) in 2 brothers. 61
14451624 1962
445
[Gastrointestinal aspiration biopsy in pediatrics. VII. Morphological study of the gastric mucosa in anemias and lipoidosis]. 61
13865982 1961
446
[On the significance of a prolonged functional tension of the nervous system in the development of lipoidosis of the aorta and lesions of the myocardium in rabbits]. 61
13755746 1961
447
Juvenile cerebral lipoidosis in two siblings. A report of two cases of Spielmeyer-Vogt's disease. 61
13769975 1961
448
[A case of primary hepatosplenomegalic lipoidosis in an adult]. 61
13720820 1960
449
[Content of acetalphosphatide in psoriasis vulgaris, with a contribution to the problem of psoriasis vulgaris as a lipoidosis]. 61
13576761 1958
450
A case of amaurotic family idiocy with lipid storage disease of bone. 61
13488863 1957
451
[Lipoidosis of the anterior chamber during diabetic iritis]. 61
13536678 1957
452
[Study of a case of Gaucher's kerasinic lipoidosis]. 61
13418090 1956
453
A case of lipoidosis following Rh factor incompatibility. 61
13376733 1956
454
[Hand-Schüller-Christian syndrome: reticuloendothelial lipoidosis, or cranio-hypophyseal xanthomatosis]. 61
13386317 1956
455
[Neurochemical studies on demyelinization and lipoidosis during growth]. 61
13387863 1956
456
[Lipoidosis; hematological diagnosis]. 61
13412412 1956
457
[Bone marrow and blood picture, and radiological and ocular findings in the phosphatide lipoidosis of Niemann-Pick]. 61
13388487 1956
458
[Oppenheim-Urbach lipoidosis of annular granuloma type in a tuberculous diabetic]. 61
13364601 1956
459
[Lipoidosis of the lips and an eyelid]. 61
13364600 1956
460
[A strange case of renal lipoidosis]. 61
13332745 1955
461
A form of lipoidosis of the adrenal cortex in an infant. 61
13275986 1955
462
[Serum lipoids and proteins and carbohydrate metabolism in so-called idiopathic lipoidosis]. 61
13264564 1955
463
[Reactive modifications of structural elements of the aortic wall in rabbit in experimental lipoidosis]. 61
13283861 1955
464
[Neural lipoidosis]. 61
13260043 1955
465
[Skin phenomena in lipoidosis]. 61
13285144 1955
466
Vacuolized lymphocytes in lipoidosis. 61
13301895 1955
467
[The problem of the so-called lipoidosis]. 61
13299678 1955
468
[Contribution to the etiopathogenesis of cutaneous and mucosal lipoidosis (lipoid proteinosis)]. 61
14390979 1955
469
[Histological methods in differential diagnosis of leukodystrophy from lipoidosis]. 61
13303397 1955
470
[Biochemical approach to types of lipoidosis and leukodystrophy]. 61
13255504 1955
471
[Angioglomerulo-tubular lipoidosis without humoral syndrome of nephrosis]. 61
13237132 1954
472
[Eosinophilic granuloma and systemic reticuloendothelial lipoidosis]. 61
13220426 1954
473
Glomerular lipoidosis in the dog. 61
13148485 1954
474
[Formation of vascular lipoidosis according to new biochemical data]. 61
13159667 1954
475
[Cholesterol lipoidosis of the choroid plexi]. 61
13189654 1954
476
A second case in the same family of congenital familial cerebral lipoidosis resembling amaurotic family idiocy. 61
13149199 1954
477
[Lipoidosis and some related diseases]. 61
13156072 1953
478
[Carotene pulmonary lipoidosis]. 61
13159534 1953
479
[A lipoidosis of the spleen resembling that of Niemann-Pick disease]. 61
13104048 1953
480
[Pathology of lipoidosis. I. Cholesterinosis]. 61
13071297 1953
481
[Cholesterol lipoidosis of the nervous system]. 61
13167908 1953
482
[The place of splenectomy in the treatment of Gaucher's splenomegalic lipoidosis]. 61
13027185 1952
483
[Anatomo-clinical notes on lipoid nephrosis and nephropathies with renal lipoidosis]. 61
13049435 1952
484
[Diagnosis of polycoric lipoidosis]. 61
14953027 1952
485
[Lipocalcinogranulomatosis, a lipoidosis]. 61
14926770 1952
486
[Cutaneous lipoidosis and cirrhosis]. 61
13017618 1952
487
Proptosis caused by lipoidosis. 61
14895852 1952
488
[Xanthomatosis or lipoidosis]. 61
14895502 1951
489
[Cutaneous lipoidosis of the Oppenheim-Urbach type]. 61
24541309 1951
490
[Symmetrical cholesterol lipoidosis of the Achilles tendon]. 61
14912376 1951
491
[Studies on degenerative modifications of the quadriceps tendon (lipoidosis, atheromatosis, sclerosis)]. 61
14837116 1951
492
[Experimental study on hyperplasia and lipoidosis of the wall of the gallbladder. II. Effect of massive application of hormones]. 61
14904214 1951
493
[Experimental studies on hyperplasia and lipoidosis of the wall of the gallbladder. I. Relation of hyperplasia to malignant degeneration of the bladder mucosa]. 61
14904213 1951
494
[Strawberry gallbladder as cholecystitis complicated by gallbladder lipoidosis]. 61
14821803 1951
495
[Mesoinosite in experimental hepatic lipoidosis]. 61
14839079 1950
496
[Experimental lipoidosis of the liver]. 61
14793827 1950
497
[Parenchymal lipoidosis due to colchicine; difference in sensitivity of the sexes in intoxicated animals]. 61
15435520 1950
498
[Case of hepato-splenic xanthomatosis; cholesterol lipoidosis; biliary xanthomatous cirrhosis]. 61
14773403 1950
499
[Alterations of the nervous system in generalized lipoidosis]. 61
14809420 1950
500
[Diagnosis of lipoidosis by exploration function]. 61
15404366 1950
501
[Pathological histology of acute benzine poisoning; primary toxic cerebral lipoidosis]. 61
15427552 1950
502
Familial lipaemia. A new form of lipoidosis showing increase in neutral fats combined with attacks of acute pancreatitis. 61
14789478 1950
503
A case of lipoidosis of the stomach. 61
18152101 1949
504
Lipoidosis of the brain, combined with glycogenosis of the liver. 61
18125889 1949
505
A case of lipoidosis simulating double mastoiditis. 61
18111370 1949
506
Glomerular lipoidosis in intercapillary glomerulosclerosis. 61
18934298 1948
507
Ochronosis; metastasis in the choroid in a case of mammary carcinoma; Hans-Schüller-Christian lipoidosis; arachnodactylia. 61
18939179 1948
508
[Chronic relapsing pancreatitis, portal cirrhosis and lipoidosis, and cholemic nephrosis]. 61
20256391 1947
509
Lipoidosis cutis et mucosae; report of a case. 61
20283676 1947
510
Vertebra plana in lipoidosis (Hand-Schüller-Christian); a contribution to the etiology of aseptic necrosis of bone. 61
20240136 1946
511
A case for diagnosis (lipoidosis?). 61
21000227 1946
512
A case of a hitherto undescribed lipoidosis simulating rheumatoid arthritis. 61
20283091 1946
513
Cutaneous Lipoidosis (? Xanthoma Eruptivum). 61
19993116 1945
514
The lipoids of spleen and liver in various types of lipoidosis. 61
16745333 1933

Variations for Lipid Storage Disease

Expression for Lipid Storage Disease

Search GEO for disease gene expression data for Lipid Storage Disease.

Pathways for Lipid Storage Disease

GO Terms for Lipid Storage Disease

Cellular components related to Lipid Storage Disease according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.5 PSAP NPC1 LIPA GLA GBA GALC
2 lipid droplet GO:0005811 9.33 PNPLA3 PNPLA2 ABHD5
3 lysosomal lumen GO:0043202 9.02 PSAP LIPA GLA GBA GALC

Biological processes related to Lipid Storage Disease according to GeneCards Suite gene sharing:

(showing 13, show less)
# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.73 SREBF1 NPC1 GBA CYP27A1
2 lipid catabolic process GO:0016042 9.67 PNPLA3 PNPLA2 LIPA GALC
3 lipid homeostasis GO:0055088 9.63 PNPLA3 PNPLA2 ABHD5
4 cholesterol metabolic process GO:0008203 9.62 SREBF1 NPC1 GBA CYP27A1
5 positive regulation of cellular protein metabolic process GO:0032270 9.52 INS ADIPOQ
6 acylglycerol acyl-chain remodeling GO:0036155 9.51 PNPLA3 PNPLA2
7 positive regulation of triglyceride catabolic process GO:0010898 9.49 PNPLA2 ABHD5
8 negative regulation of sequestering of triglyceride GO:0010891 9.48 PNPLA2 ABHD5
9 sphingolipid metabolic process GO:0006665 9.46 SMPD2 PSAP GBA GALC
10 low-density lipoprotein particle clearance GO:0034383 9.43 NPC1 LIPA ADIPOQ
11 galactosylceramide catabolic process GO:0006683 9.4 PSAP GALC
12 lipid metabolic process GO:0006629 9.36 SREBF1 SMPD2 PSAP PNPLA3 PNPLA2 NPC1
13 glycosphingolipid metabolic process GO:0006687 9.35 SMPD2 PSAP GLA GBA GALC

Molecular functions related to Lipid Storage Disease according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.76 SMPD2 PNPLA3 PNPLA2 LIPA GLA GBA
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.43 GLA GBA GALC
3 1-acylglycerol-3-phosphate O-acyltransferase activity GO:0003841 9.32 PNPLA3 ABHD5
4 lysophosphatidic acid acyltransferase activity GO:0042171 8.96 PNPLA3 ABHD5
5 triglyceride lipase activity GO:0004806 8.8 PNPLA3 PNPLA2 ABHD5

Sources for Lipid Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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