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UnknownGeneration of induced Pluripotent Stem Cells as disease modelling of NLSDM.
Not available
S-EPMC5434246 | biostudies-literature
UnknownCharacterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Not available
S-EPMC6234560 | biostudies-literature
UnknownA novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy.
Not available
S-EPMC7859421 | biostudies-literature
UnknownInferior mesenteric artery preservation techniques in the treatment of diverticular disease: a systematic review of the literature.
Not available
S-EPMC11519083 | biostudies-literature
UnknownNeutral lipid storage disease with myopathy: A 10-year follow-up case report.
Not available
S-EPMC9295162 | biostudies-literature
UnknownMetabolic lipid muscle disorders: biomarkers and treatment.
Not available
S-EPMC6477769 | biostudies-literature
UnknownA novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.
Not available
S-EPMC6935165 | biostudies-literature
UnknownRecurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome.
Not available
S-EPMC8274219 | biostudies-literature
UnknownMiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy.
Not available
S-EPMC7004093 | biostudies-literature
UnknownLate 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.
Not available
S-EPMC5424884 | biostudies-literature
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