Aromatic L‐amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings

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Bibliographic Details
Published inJournal of inherited metabolic disease Vol. 21; no. 3; pp. 240 - 242
Main Authors Abeling, N. G. G. M., Gennip, A. H., Barth, P. G., Cruchten, A., Westra, M., Wijburg, F. A.
Format Journal Article
LanguageEnglish
Published Dordrecht Kluwer Academic Publishers 01.06.1998
Springer
Subjects
Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid
Amino Acid Metabolism, Inborn Errors - diagnosis
Amino Acid Metabolism, Inborn Errors - urine
Aminoacid disorders
Aromatic-L-Amino-Acid Decarboxylases - deficiency
Biogenic Amines - cerebrospinal fluid
Biogenic Amines - urine
Biological and medical sciences
Diagnostic Tests, Routine
Errors of metabolism
Female
Humans
Infant
Medical sciences
Metabolic diseases
Human
Case study
Carbon-carbon lyases
Enzyme
Carboxy-lyases
Deficiency
Metabolic diseases
Aromatic-L-amino-acid decarboxylase
Infant
Lyases
Enzymopathy
Aminoacid disorder
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Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1005307919767