| Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital. | |
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MedLine Citation:
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PMID: 3148069 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present a summary of the results of quantitative amino acid analysis in 800 subjects over a three-year period in Al-Sabah Hospital, Kuwait. Thirty-five patients with aminoacidopathy were identified, all but two of whom were the offspring of first-degree consanguineous marriages: nine cases of phenylketonuria, one benign hyperphenylalaninaemia, seven non-ketotic hyperglycinaemia, five tyrosinaemia, five homocystinuria, four citrullinaemia, two cystinuria, one hyperprolinaemia, and one maple syrup urine disease. The clinical and biochemical findings in these cases are described. |
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Authors:
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G C Yadav; P C Reavey |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 11 ISSN: 0141-8955 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 1988 |
Date Detail:
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Created Date: 1989-04-12 Completed Date: 1989-04-12 Revised Date: 2007-03-21 |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 277-84 Citation Subset: IM |
Affiliation:
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Department of Clinical Biochemistry, Al-Sabah Hospital, Kuwait. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Amino Acid Metabolism, Inborn Errors / metabolism* Amino Acids / analysis Child Child, Preschool Citrulline / blood Cystinuria / metabolism Female Glycine / blood Homocystinuria / metabolism Humans Infant Infant, Newborn Kuwait Male Maple Syrup Urine Disease / metabolism Phenylalanine / blood Phenylketonurias / metabolism Proline / blood Tyrosine / blood |
| Chemical | |
Reg. No./Substance:
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0/Amino Acids; 147-85-3/Proline; 372-75-8/Citrulline; 55520-40-6/Tyrosine; 56-40-6/Glycine; 63-91-2/Phenylalanine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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