| Long term outcome of organic acidurias: survey of 105 French cases (1967-1983). | |
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MedLine Citation:
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PMID: 6434836 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The French experience in the long term follow-up of 105 cases of organic aciduria (45 maple syrup urine disease, 12 isovaleric acidaemia, 19 propionic acidaemia, 24 methylmalonic aciduria and some rare allied disorders) is reported. Main conclusions drawn from this survey are the poor overall prognosis and the slow improvement in the outcome of such disorders over the last 15 years. In MSUD, while early diagnosis and early management remain a basic requirement, intellectual development did not improve as much as expected. In propionic and methylmalonic acidaemia modern treatment does not prevent a fatal outcome in the classical neonatal forms. It should be also emphasized that in the rare cases where a coenzyme deficiency has been demonstrated, vitamin therapy is very often ineffective in vivo. |
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Authors:
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R Rousson; P Guibaud |
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Publication Detail:
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Type: Comparative Study; Journal Article |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 7 Suppl 1 ISSN: 0141-8955 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 1984 |
Date Detail:
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Created Date: 1984-11-09 Completed Date: 1984-11-09 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: 10-2 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acids
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urine* Adolescent Child Child, Preschool France Humans Infant Infant, Newborn Maple Syrup Urine Disease / therapy Metabolism, Inborn Errors / therapy* Methylmalonic Acid / blood Pentanoic Acids / blood Prognosis Propionic Acids / blood Time Factors |
| Chemical | |
Reg. No./Substance:
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0/Acids; 0/Pentanoic Acids; 0/Propionic Acids; 503-74-2/isovaleric acid; 516-05-2/Methylmalonic Acid; 79-09-4/propionic acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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