Metabolism and Genetic Disorders
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Scope of this subject
This cluster of papers covers a wide range of topics related to metabolic disorders and biochemical genetics, including newborn screening, mitochondrial function, carnitine metabolism, phenylketonuria, tandem mass spectrometry, inborn errors of metabolism, tyrosine hydroxylase activity, and tetrahydrobiopterin biosynthesis. The papers discuss various aspects of diagnosis, management, and treatment of these disorders.
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Research vocabulary
inborn errors of metabolism; phenylketonuria; newborn screening; hyperammonemia; urea cycle disorders; methylmalonic acidemia; galactosemia; hyperphenylalaninemia; peroxisomal disorders; organic aciduria; amino acid metabolism disorders; maple syrup urine disease; phenylalanine hydroxylase; fatty acid oxidation disorders; alkaptonuria; X-linked adrenoleukodystrophy; acylcarnitines; ornithine transcarbamylase deficiency; propionic acidemia; very long chain fatty acids; tetrahydrobiopterin; medium-chain acyl-CoA dehydrogenase deficiency; adrenoleukodystrophy; leukodystrophy; Zellweger syndrome
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Local answer status
No owner-reviewed answer has been published for this exact subject page. This is a gap in this collection; it does not establish that the answer is unavailable elsewhere.
Numeric address and provenance
Morton address: 36174533850064523 · morton4x16-v1
Coordinates: (1, 13, 1308, 11027). The address interleaves categorical identifier bits. Nearby addresses are not guaranteed to describe semantically similar subjects.
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