Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

Science ◽  
1973 ◽  
Vol 179 (4076) ◽  
pp. 899-902 ◽  
Author(s):  
A. G. Engel ◽  
C. Angelini
Keyword(s):  
Skeletal Muscle ◽  
Human Skeletal Muscle ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Lipid Storage Myopathy

Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course

2004 ◽  
Vol 11 (8) ◽  
pp. 919-924 ◽  
Author(s):  
S. Vielhaber ◽  
H. Feistner ◽  
J. Weis ◽  
J. Kreuder ◽  
M. Sailer ◽  
...  
Keyword(s):  
Clinical Course ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Adult Onset ◽  
Lipid Storage Myopathy ◽  
Primary Carnitine Deficiency

Short-Chain Acyl-CoA Dehydrogenase Deficiency Associated with a Lipid-Storage Myopathy and Secondary Carnitine Deficiency

1984 ◽  
Vol 311 (19) ◽  
pp. 1232-1236 ◽  
Author(s):  
Douglass M. Turnbull ◽  
Kim Bartlett ◽  
David L. Stevens ◽  
K. George M. M. Alberti ◽  
G. John Gibson ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Short Chain ◽  
Lipid Storage Myopathy ◽  
Chain Acyl

Muscle carnitine deficiency: adult onset lipid storage myopathy with sensory neuropathy

2009 ◽  
Vol 31 (1) ◽  
pp. 61-64 ◽  
Author(s):  
Wei Zhang ◽  
Jianting Miao ◽  
Guangyun Zhang ◽  
Rui Liu ◽  
Dawei Zhang ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Adult Onset ◽  
Lipid Storage Myopathy ◽  
Muscle Carnitine Deficiency

scholarly journals Lipid storage changes in human skeletal muscle during detraining

2015 ◽  
Vol 6 ◽  
Author(s):  
Rong Zhu ◽  
Caiyun Wen ◽  
Jiance Li ◽  
M. Brennan Harris ◽  
Yung-Yang Liu ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Human Skeletal Muscle ◽  
Lipid Storage

scholarly journals Fatal cases of lipid storage myopathy with carnitine deficiency.

1977 ◽  
Vol 40 (2) ◽  
pp. 170-178 ◽  
Author(s):  
F Cornelio ◽  
S Di Donato ◽  
D Peluchetti ◽  
A Bizze ◽  
B Bertagnolio ◽  
...  
Keyword(s):  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Lipid Storage Myopathy

scholarly journals Mitochondrial dysfunction in human skeletal muscle biopsies of lipid storage disorder

2018 ◽  
Vol 145 (4) ◽  
pp. 323-341 ◽  
Author(s):  
Bandopadhyay Debashree ◽  
Manish Kumar ◽  
Thottethodi Subrahmanya Keshava Prasad ◽  
Archana Natarajan ◽  
Rita Christopher ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Mitochondrial Dysfunction ◽  
Human Skeletal Muscle ◽  
Lipid Storage ◽  
Storage Disorder ◽  
Lipid Storage Disorder ◽  
Muscle Biopsies

Cardiomyopathy and Short Stature Associated with Mitochondrial and/or Lipid Storage Myopathy of Skeletal Muscle

1976 ◽  
Vol 7 (02) ◽  
pp. 196-208 ◽  
Author(s):  
R. Sengers ◽  
A. Stadhouders ◽  
H. Jaspar ◽  
J. Trijbels ◽  
O. Daniels
Keyword(s):  
Skeletal Muscle ◽  
Short Stature ◽  
Lipid Storage ◽  
Lipid Storage Myopathy

A Case of Lipid Storage Myopathy with Carnitine Deficiency

1977 ◽  
Vol 16 (1-6) ◽  
pp. 222-229 ◽  
Author(s):  
G. Scarlato ◽  
M.G. Albizzati ◽  
S. Bassi ◽  
C. Cerriand ◽  
L. Frattoh
Keyword(s):  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Lipid Storage Myopathy

A hereditary case of lipid storage myopathy with carnitine deficiency

1980 ◽  
Vol 223 (2) ◽  
pp. 73-84 ◽  
Author(s):  
G. Pellegrini ◽  
G. Scarlato ◽  
M. Moggio
Keyword(s):  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Lipid Storage Myopathy
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