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6
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"Acyl-CoA" oxidase deficiency
- ... not show signs and symptoms of the condition. Acyl-coenzyme A oxidase deficiency Pseudo-NALD Pseudoadrenoleukodystrophy Pseudoneonatal adrenoleukodystrophy Straight-chain acyl- ...
- ... HR. Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. Hum Mutat. 2007 Sep;28(9):904-12. ... Besley GT, Wanders RJ, King MD. Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and ...
- Leukodystrophies (National Library of Medicine)What are leukodystrophies? Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your ...
- ... as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. ... oxidoreductase (ETF-QO) to human chromosome 4q33 by fluorescence ...
- ... and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) ... acyl-CoA dehydrogenation deficiency. Hum Mutat. 2003 Jul;22(1):12-23. ...
- Amino Acid Metabolism Disorders (National Library of Medicine)Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks ...