Aromatic L‐amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings
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| Published in | Journal of inherited metabolic disease Vol. 21; no. 3; pp. 240 - 242 |
|---|---|
| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Dordrecht
Kluwer Academic Publishers
01.06.1998
Springer |
| Subjects | |
| Online Access | Get full text |
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| Author | Westra, M. Barth, P. G. Wijburg, F. A. Gennip, A. H. Cruchten, A. Abeling, N. G. G. M. |
|---|---|
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| Keywords | 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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| References | 1990; 13 1992; 38 1990; 36 1984; 137 Stroomer AEM (e_1_2_1_5_1) 1990; 36 e_1_2_1_3_1 e_1_2_1_4_1 e_1_2_1_2_1 |
| References_xml | – volume: 13 start-page: 301 year: 1990 end-page: 304 article-title: Aromatic amino acid decarboxylase deficiency in twins publication-title: J Inher Metab Dis – volume: 38 start-page: 2405 year: 1992 end-page: 2410 article-title: Aromatic ‐amino acid decarboxylase deficiency: diagnostic methodology publication-title: Clin Chem – volume: 137 start-page: 211 year: 1984 end-page: 226 article-title: Simultaneous determination of catecholamines and metanephrines in urine by HPLC with fluorimetric detection publication-title: Clin Chim Acta – volume: 36 start-page: 1834 year: 1990 end-page: 1837 article-title: Simultaneous detection of acidic 3,4–dihydroxy‐phenylalanine metabolites and 5–hydroxy‐indole‐3–acetic acid in urine by high‐performance liquid chromatography publication-title: Clin Chim Acta – ident: e_1_2_1_2_1 doi: 10.1016/0009-8981(84)90181-5 – volume: 36 start-page: 1834 year: 1990 ident: e_1_2_1_5_1 article-title: Simultaneous detection of acidic 3,4–dihydroxy‐phenylalanine metabolites and 5–hydroxy‐indole‐3–acetic acid in urine by high‐performance liquid chromatography publication-title: Clin Chim Acta doi: 10.1093/clinchem/36.10.1834 contributor: fullname: Stroomer AEM – ident: e_1_2_1_4_1 doi: 10.1093/clinchem/38.12.2405 – ident: e_1_2_1_3_1 doi: 10.1007/BF01799380 |
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| SubjectTerms | 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 |
| Title | Aromatic L‐amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings |
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