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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.
2018
2018
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
BMC Medical Genomics
2018
Corpus ID: 4559525
BackgroundLipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical…
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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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2017
2017
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.
C. Angelini
,
D. Tavian
,
S. Missaglia
JIMD Reports
2017
Corpus ID: 4520219
We present six novel patients affected by lipid storage myopathy (LSM) presenting mutations in the ETFDH gene. Although the…
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2016
2016
Lipolysis and lipophagy in lipid storage myopathies
C. Angelini
,
A. Nascimbeni
,
G. Cenacchi
,
E. Tasca
Biochimica et Biophysica Acta
2016
Corpus ID: 34048421
2016
2016
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency
Hong-xia Fu
,
Xin-yi Liu
,
+5 authors
Ning Wang
Neurological Sciences
2016
Corpus ID: 25274456
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) with electron transfer flavoprotein dehydrogenase (ETFDH) gene…
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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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Review
2012
Review
2012
Value of muscle enzyme measurement in evaluating different neuromuscular diseases.
Yue Zhang
,
Jing-Jing Huang
,
Zhiqiang Wang
,
Ning Wang
,
Zhi-Ying Wu
Clinica chimica acta; international journal of…
2012
Corpus ID: 9878522
Review
2011
Review
2011
Lipid Storage Myopathy
W. Liang
,
I. Nishino
Current Neurology and Neuroscience Reports
2011
Corpus ID: 29802945
Lipid storage myopathy (LSM) is pathologically characterized by prominent lipid accumulation in muscle fibers due to lipid…
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Review
2010
Review
2010
State of the art in muscle lipid diseases
W. Liang
,
I. Nishino
Acta myologica
2010
Corpus ID: 14856022
Fatty acid oxidation in mitochondrial matrix is a major source of energy in muscle, especially when physiological energy demand…
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1993
1993
Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy
Y. Campos
,
R. Huertas
,
+8 authors
J. Arenas
Muscle and Nerve
1993
Corpus ID: 27731825
Abnormal carnitine distribution in muscle was found in 22 of 77 patients (29%), with mitochondrial myopathy. Furthermore, total…
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