|1|Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. (23146629)
Fiorillo C.... Bruno C.
|2|Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. (23824421)
Natali A.... Arca M.
|3|Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. (22832386)
Lin P.... Yan C.
|4|Lipid Storage Myopathy in BehAset's Disease: A Rare Cause of Elevated Serum Creatine Kinases Levels. (22937450)
Yilmaz S.... Dinc A.
|5|Neutral lipid storage disease with unusual presentation: report of three cases. (21575048)
Singh S.... Varghese B.
|6|Fat in the skin: Triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease. (21695016)
Radner F.P.... Zechner R.
|7|Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. (21045422)
Mitra S.... Chatterjee S.
|8|Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. (20471263)
Akman H.O.... DiMauro S.
|9|A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. (21073837)
Chen J.... Yuan Y.
|10|Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. (19401457)
Schweiger M.... Zechner R.
|11|Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. (18952067)
Campagna F.... Arca M.
|12|Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon]. (18483801)
Zacherl M.... Windhager W.
|13|Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IX. (17407002)
Geberhiwot T.... Cramb R.
|14|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.
|15|The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. (17187067)
Fischer J.... Salvayre R.
|16|Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). (16741516)
Demerjian M.... Elias P.M.
|17|Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. (15967942)
Schleinitz N.... Pelissier J.-F.
|18|Use of Rab GTPases to study lipid trafficking in normal and sphingolipid storage disease fibroblasts. (16473585)
Choudhury A.... Pagano R.E.
|19|Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. (11829492)
Li C.M.... Hepbiloikler S.
|20|Accumulated lipids, aberrant fatty acid composition and defective cholesterol ester hydrolase activity in cholesterol ester storage disease. (10735362)
Todoroki T.... Imai K.
|21|A cause of fatty liver: neutral lipid storage disease with ichthyosis--electron microscopic findings. (10573364)
GA1rakan F.... Atakan N.
HAonichen T.... Hermanns W.
|23|Neutral lipid storage disease--response to dietary intervention. (9301368)
Kakourou T.... Dacou-Voutetakis C.
|24|Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. (8663220)
Igal R.A.... Coleman R.A.
|25|Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report. (7955510)
BaA+uls J.... RomA!n P.
|26|Cellular uptake and catabolism of high-density-lipoprotein triacylglycerols in human cultured fibroblasts: degradation block in neutral lipid storage disease. (8110183)
Hilaire N.... Salvayre R.
|27|Neutral lipid storage disease. Case report and lipid studies. (8186119)
Judge M.R.... Lake B.D.
|28|Glycogen storage disease associated with Niemann-Pick disease: histochemical, enzymatic, and lipid analyses. (8058718)
Narita T.... Kudo H.
|29|Neutral lipid storage disease with ichthyosis: serum apolipoprotein levels and cholesterol metabolism in monocyte-derived macrophages. (1909403)
Bergman R.... Friedman-Birnbaum R.
|30|Spectroscopic MRI: a tool for the evaluation of systemic lipid storage disease. (2392038)
Leroy-Willig A.... Syrota A.
|31|Multifocal verruciform xanthoma of the upper aerodigestive tract in a child with a systemic lipid storage disease. (2539022)
Travis W.D.... Ishak K.G.
|32|Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts. (3139924)
Williams M.L.... Grunfeld C.
|33|Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome). (3205858)
Venencie P.Y.... Hadchouel M.
|34|Ichthyosis and neutral lipid storage disease. (3354610)
Musumeci S.... Cutrona D.
|35|Ichthyosis and neutral lipid storage disease. (3993689)
Williams M.L.... Epstein C.J.
|36|Gaucher's disease: a case history with extensive lipid storage in the brain. (3984948)
Leech R.W.... Jewett T.T.
|37|Lipid storage disease: Part I. Ultrastructure of xanthoma cells in various xanthomatous diseases. (6650173)
Takahashi K.... Naito M.
|38|Amiodarone keratopathy: drug-induced lipid storage disease. (6258544)
D'Amico D.J.... Ruskin J.N.
|39|Two populations of type I fibres in striated muscle from a case of neutral lipid storage disease. (521823)
McKeran R.O.... Slavin G.
|40|The storage lipids in Tangier disease. A physical chemical study. (193870)
Katz S.S.... Lees R.S.
|41|Ocular movements in lipid storage disease. Reports of juvenile Gaucher disease and the ophthalmoplegic lipidosis. (953203)
Sanders M.D.... Lake B.D.
|42|Neutral-lipid storage disease: a new disorder of lipid metabolism. (1139147)
Chanarin I.... Stewart G.
|43|Morphological features in a neutral lipid storage disease. (1165295)
Slavin G.... Stewart G.
|44|Mental retardation in children. III. Tay-Sachs disease and infantile lipid storage disorders with visceral involvement. (4214767)
Joshua G.E.... Bala V.I.
|45|Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. (4360855)
Bhattacharyya A.K.... Connor W.E.
|46|Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. (5135907)
Sandhoff K.... Jatzkewitz H.
|47|Lipid storage disease in a Siamese cat. (5461697)
Chrisp C.E.... Brenkert A.
|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.
|50|A case of amaurotic family idiocy with lipid storage disease of bone. (13488863)