| Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. | |
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MedLine Citation:
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PMID: 20610126 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC type, which was complicated by sensorimotor peripheral demyelinating neuropathy. |
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Authors:
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Daniele Frattini; Carlo Fusco; Valentina Ucchino; Barbara Tavazzi; Elvio Della Giustina |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 43 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-08 Completed Date: 2011-01-14 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 135-8 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier Inc. All rights reserved. |
Affiliation:
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Child Neurology Unit, Arcispedale Santa Maria Nuova, 42100 Reggio Emilia, Italy. frattini.daniele@asmn.re.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Demyelinating Diseases
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complications,
urine* Female Genetic Association Studies Homocystinuria / complications, urine* Humans Infant Methylmalonic Acid / urine* Neural Conduction / physiology Peripheral Nervous System Diseases / complications, urine* |
| Chemical | |
Reg. No./Substance:
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516-05-2/Methylmalonic Acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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