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Myopathy with Abnormal Lipid Metabolism
Known as:
Lipid Storage Myopathy
National Institutes of Health
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Related topics
Related topics
5 relations
Bannayan-Riley-Ruvalcaba Syndrome
Cataract and cardiomyopathy
Deficiency of butyryl-CoA dehydrogenase
Broader (2)
Lipid Metabolism, Inborn Errors
Muscular Dystrophy
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin
Hong-liang Xu
,
Xin Chen
,
+4 authors
Shuang Li
International Journal of Neuroscience
2020
Corpus ID: 211136404
Abstract Background: Recessive mutations in ETFDH gene have been associated with Multiple Acyl-CoA dehydrogenase deficiency (MADD…
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2019
2019
Title Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy : a case report
L. Goh
,
Yingshan Lee
,
E. Tan
,
J. Lim
,
C. W. Lim
,
R. Dalan
2019
Corpus ID: 145042995
Background: Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical…
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2018
2018
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
S. Missaglia
,
D. Tavian
,
L. Moro
,
C. Angelini
Lipids in Health and Disease
2018
Corpus ID: 53292525
Deficiency of electron transfer flavoprotein dehydrogenase (ETFDH) is associated with multiple acyl-CoA dehydrogenase deficiency…
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2018
2018
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH
Juan Wang
,
Juncang Wu
,
Xu-en Yu
,
Yongzhu Han
,
Ren-min Yang
Medicine
2018
Corpus ID: 54556901
Rationale: Late-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD) mainly affects the neck extensor muscle group…
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2016
2016
Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations
Xin-yi Liu
,
Ming Jin
,
+5 authors
Ning Wang
Chinese Medical Journal
2016
Corpus ID: 7644679
Background:Lipid storage myopathy (LSM) is a genetically heterogeneous group with variable clinical phenotypes. Late-onset…
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2015
2015
Metabolic Encephalopathy and Lipid Storage Myopathy Associated with a Presumptive Mitochondrial Fatty Acid Oxidation Defect in a Dog
Caroline Hahn
,
Paula Martin-Vaquero
,
Vanessa Biegen
,
J. Mccue
,
T. Donovan
,
G. Shelton
Frontiers in Veterinary Science
2015
Corpus ID: 15318939
A 1-year-old spayed female Shih Tzu presented for episodic abnormalities of posture and mentation. Neurological examination was…
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