|1|New Players in the Infertility of a Mouse Model of Lysosomal Storage Disease: The Hypothalamus-Pituitary-Gonadal Axis. (24432014)
Piomboni P.... Luddi A.
|2|Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)
|3|Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. (24038957)
Larkin H.... Lavoie C.
|4|Niemann-Pick C disease: not your average lysosomal storage disease. (21205672)
|5|Lysosomal storage disease: revealing lysosomal function and physiology. (20430954)
Parkinson-Lawrence E.J.... Brooks D.A.
|6|Spontaneous lysosomal storage disease caused by Sida carpinifolia (Malvaceae) poisoning in cattle. (19261649)
Furlan F.H.... Gava A.
|7|Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. (19324223)
Wynn R.F.... Bigger B.W.
|8|Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease. (18339181)
Aerts J.M.... de Koster C.G.
|9|A study on serum IgE and clinical symptomatology of atopy in patients suffering from the lysosomal storage disorder Fabry disease. (18384565)
MAPhrenschlager M.... Ring J.
|10|Rapid and effective screening for lysosomal storage disease: how close are we? (18824571)
|11|Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis. (18254660)
Mu T.W.... Kelly J.W.
|12|Abnormalities in neural progenitor cells in a dog model of lysosomal storage disease. (17882020)
Walton R.M.... Wolfe J.H.
|13|Cellular pathophysiology of lysosomal storage diseases (21290703)
Mehta A.... Sunder-Plassmann G.
|14|Role of patient support groups in lysosomal storage diseases (21290682)
Mehta A.... Sunder-Plassmann G.
|15|Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. (16950870)
PoAt M.... Jentsch T.J.
|16|Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease. (16568247)
Sawkar A.R.... Kelly J.W.
|17|Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). (16314482)
Koike M.... Uchiyama Y.
|18|Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). (15604908)
Pastores G.M.... Meere P.A.
|19|Widespread gene transduction to the central nervous system by adenovirus in utero: implication for prenatal gene therapy to brain involvement of lysosomal storage disease. (15459963)
Shen J.S.... Eto Y.
|20|Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II. (12633905)
Hesselink R.P.... Van der Vusse G.J.
|21|Lysosomal storage disease in Sida carpinifolia toxicosis: an induced mannosidosis in horses. (12875319)
Loretti A.P.... Driemeier D.
|22|Advances in the treatment of lysosomal storage disease. (11570635)
|23|Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. (11405346)
Platt F.M.... Zimran A.
|24|A lysosomal storage disease of Romney sheep that resembles human type 3 GM1 gangliosidosis. (11307621)
Ryder S.J.... Simmons M.M.
|25|Lysosomal storage disease caused by Sida carpinifolia poisoning in goats. (10714644)
Driemeier D.... Barros S.S.
|26|Treatment of a lysosomal storage disease, mucopolysaccharidosis VII, with microencapsulated recombinant cells. (11044913)
Ross C.J.... Chang P.L.
|27|Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases. (10560915)
KoAs O.N.... Krivit W.
|28|Murine mucopolysaccharidosis type VII: the impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease. (9728337)
Vogler C.... Sly W.S.
|29|The identification of five novel mutations in the lysosomal acid alpha-(1,4) glucosidase gene from patients with glycogen storage disease type II. (10206684)
Beesley C.E.... Yacoub M.Y.
|30|A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease? (9703182)
Simon D.K.... Natowicz M.R.
|31|Polyunsaturated fatty acids reverse the lysosomal storage and accumulation of subunit 9 of mitochondrial F1F0-ATP synthase in cultured lymphoblasts from patients with Batten disease. (9266381)
Bennett M.J.... Boustany R.M.
|32|A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin. (9365051)
Gasche C.... Ferenci P.
|33|Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease. (8747922)
Cohen-Tannoudji M.... Muggleton-Harris A.L.
|34|Medicinal therapy for lysosomal storage diseases]. (8577061)
|35|Tissue culture loading test with storage granules from animal models of neuronal ceroid-lipofuscinosis (Batten disease): testing their lysosomal degradability by normal and Batten cells. (7668332)
Elleder M.... Palmer D.N.
|36|The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (Pro545Leu) on the expression of lysosomal alpha- glucosidase in patients with glycogen storage disease type II. (7881422)
Hermans M.M.P.... Reuser A.J.J.
|37|A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease. (7833918)
Pagani F.... Maier J.A.
|38|Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease. (8312372)
MAoAottAo A.... Penttinen R.P.
|39|Busulfan disposition below the age of three: alteration in children with lysosomal storage disease. (8338934)
Vassal G.... Gluckman E.
|40|Inherited lysosomal storage disease in an English springer spaniel. (1559875)
Keller C.B.... LaMarre J.
|41|Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. (1348043)
Leinekugel P.... Sandhoff K.
|42|Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. (2010546)
Mancini G.M.... Verheijen F.W.
|43|Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. (2363700)
Blom H.J.... Gahl W.A.
|44|Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum. (2564952)
Kanzaki T.... Hirabayashi Y.
|45|Extra heating of TLC plates detects two lysosomal storage diseases, aspartylglucosaminuria and fucosidosis, during routine urinary amino acid screening. (6627685)
Simell O.... Autio S.
|46|Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. (6681560)
Renlund M.... Koskela S.L.
|47|Lipoid proteinosis: in vivo and in vitro evidence for a lysosomal storage disease. (7462673)
Bauer E.A.... Eisen A.Z.
|48|GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency. (404709)
Cork L.C.... Rattazzi M.C.
|49|Letter: Lysosomal storage disease in chihuahuas. (1191142)
Rac R.... Giesecke P.R.
|50|Fine structure and silver-staining patterns of lysosome-like bodies in absorptive cells of the small intestine in normal children and children with a lysosomal storage disease. (4201198)
Ginsel L.A.... van Gemund J.J.