|1|Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy. (23449549)
van de Weijer T.... Schrauwen P.
|2|Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. (23333026)
LaforA-t P.... Carlier R.Y.
|3|Cardiac oxidative stress in a mouse model of neutral lipid storage disease. (23867907)
Schrammel A.... Mayer B.
|4|In vivo hepatic lipid quantification using MRS at 7 Tesla in a mouse model of glycogen storage disease type 1a. (23596325)
Ramamonjisoa N.... Cavassila S.
|5|Characteristic Scattergram of White Blood Cells Obtained Using the Pentra MS CRP Hematology Analyzer in a Patient with Neutral Lipid Storage Disease. (24370872)
Inaba T.... Fujita N.
|6|Blocked muscle fat oxidation during exercise in neutral lipid storage disease. (22491199)
LaforA-t P.... Vissing J.
|7|Neutral lipid storage disease with unusual presentation: report of three cases. (21575048)
Singh S.... Varghese B.
|8|Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. (20471263)
Akman H.O.... DiMauro S.
|9|Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. (19696711)
Keren Z.... Falik-Zaccai T.C.
|10|Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. (18952067)
Campagna F.... Arca M.
|11|Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon]. (18483801)
Zacherl M.... Windhager W.
|12|Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity]. (17631826)
Fischer J.... Salvayre R.
|13|Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. (17657808)
Akiyama M.... Shimizu H.
|14|Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. (15944902)
Elleder M.... Harzer K.
|15|Disturbed lipid metabolism in glycogen storage disease type 1. (12373575)
Bandsma R.H.... Kuipers F.
|16|Neutral sphingomyelinase 1 deficiency in the mouse causes no lipid storage disease. (11997500)
Zumbansen M.... Stoffel W.
|17|Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features. (11251597)
PeA+a-penabad C.... Fonseca E.
|18|Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase. (11177564)
Tietge U.J.... Rader D.J.
|19|Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (10745395)
Tullu M.S.... Bharucha B.A.
|20|A cause of fatty liver: neutral lipid storage disease with ichthyosis--electron microscopic findings. (10573364)
GA1rakan F.... Atakan N.
|21|Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. (9469583)
Igal R.A.... Coleman R.A.
|22|Neutral lipid storage disease with fatty liver and cholestasis. (9360211)
Igal R.A.... Coleman R.A.
|23|Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. (8663220)
Igal R.A.... Coleman R.A.
|24|Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report. (7955510)
BaA+uls J.... RomA!n P.
|25|Neutral lipid storage disease co-existing with ichthyosiform dermatosis. (8181512)
Dursun A.... GA1rgey A.
|26|Beneficial effects of fish-oil supplements on lipids, lipoproteins, and lipoprotein lipase in patients with glycogen storage disease type I. (8503363)
Levy E.... Seidman E.
|27|Neutral lipid storage disease with ichthyosis: serum apolipoprotein levels and cholesterol metabolism in monocyte-derived macrophages. (1909403)
Bergman R.... Friedman-Birnbaum R.
|28|Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism. (2001430)
Williams M.L.... Grunfeld C.
|29|Spectroscopic MRI: a tool for the evaluation of systemic lipid storage disease. (2392038)
Leroy-Willig A.... Syrota A.
|30|Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder. (2615292)
Christomanou H.... Guardiola A.
|31|Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome). (3205858)
Venencie P.Y.... Hadchouel M.
|32|Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses. (3037847)
Takahashi K.... Suzuki Y.
|33|Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. (4026335)
Elias P.M.... Williams M.L.
|34|Neurological mutation characterized by dysmyelination in NCTR-Balb/C mouse with lysosomal lipid storage disease. (4031853)
Weintraub H.... Sela B.
|35|The airway of patients with a lipid storage disease. (6517292)
Wark H.... Overton J.
|36|Niemann-Pick disease: lipid storage in bone marrow macrophages. (6654690)
Elleder M.... Cihula J.
|37|Fine structure of lipid storage in epithelial cells lining bile ducts in Niemann-Pick's disease. (6228729)
Nicolescu P.G.... Iacob C.
|38|Lipid storage disease: Part I. Ultrastructure of xanthoma cells in various xanthomatous diseases. (6650173)
Takahashi K.... Naito M.
|39|The liver in lipid storage disease: biochemical basis of pathogenesis and clinical features. (6810410)
Brady R.O.... Barranger J.A.
|40|Electron microscopic studies in lipid storage disease. (6266977)
Ludatscher R.M.... Gellei B.
|41|Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome. (7432384)
Chapoy P.R.... Cederbaum S.D.
|42|Tangier disease: one explanation of lipid storage. (210378)
Herbert P.N.... Fredrickson D.S.
|43|Ocular movements in lipid storage disease. Reports of juvenile Gaucher disease and the ophthalmoplegic lipidosis. (953203)
Sanders M.D.... Lake B.D.
|44|Neutral-lipid storage disease: a new disorder of lipid metabolism. (1139147)
Chanarin I.... Stewart G.
|45|Morphological features in a neutral lipid storage disease. (1165295)
Slavin G.... Stewart G.
|46|Mental retardation in children. III. Tay-Sachs disease and infantile lipid storage disorders with visceral involvement. (4214767)
Joshua G.E.... Bala V.I.
|47|Progressive paresis of vertical gaze in lipid storage disease. (5106253)
Grover W.D.... Naiman J.L.
|48|Biochemical studies on two cases of neuronal lipid storage disease. (5688475)
|49|Neuropathy in Tangier disease. Alpha-Lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage. (4165386)
Engel W.K.... Fredrickson D.S.
Thompson I.L.... MOLONEY W.C.