Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset.
de Visser, M
Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset. [electronic resource] - Neurology Mar 1986 - 367-72 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0028-3878
10.1212/wnl.36.3.367 doi
Adolescent
Carnitine--deficiency
Child
Fatty Acids--metabolism
Female
Fibroblasts--metabolism
Glutarates--urine
Humans
Infant
Lipid Metabolism
Metabolic Diseases--complications
Mitochondria, Muscle--enzymology
Muscular Diseases--complications
Pedigree
Riboflavin--therapeutic use
Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset. [electronic resource] - Neurology Mar 1986 - 367-72 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0028-3878
10.1212/wnl.36.3.367 doi
Adolescent
Carnitine--deficiency
Child
Fatty Acids--metabolism
Female
Fibroblasts--metabolism
Glutarates--urine
Humans
Infant
Lipid Metabolism
Metabolic Diseases--complications
Mitochondria, Muscle--enzymology
Muscular Diseases--complications
Pedigree
Riboflavin--therapeutic use