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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2008-5-19
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pubmed:abstractText |
Cobalamin C disease is the most common inborn error of cobalamin metabolism with an autosomal recessive mode of inheritance and mutations within the MMACHC gene. Clinical features, including systemic, haematological and neurological abnormalities, usually occur in the first year of life. Adolescent and adult onset presentations are rare.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1468-330X
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pubmed:author |
pubmed-author:BruneteauGG,
pubmed-author:CouvreurGG,
pubmed-author:FaivreLL,
pubmed-author:GiraudierSS,
pubmed-author:GiroudMM,
pubmed-author:GrableHH,
pubmed-author:HorellouM-HMH,
pubmed-author:Masurel-PauletAA,
pubmed-author:MoreauTT,
pubmed-author:PerennouDD,
pubmed-author:RozeEE,
pubmed-author:SedekGG,
pubmed-author:Thauvin-RobinetCC,
pubmed-author:TonnetiCC,
pubmed-author:de BaulnyH OgierHO
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pubmed:issnType |
Electronic
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pubmed:volume |
79
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
725-8
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pubmed:meshHeading |
pubmed-meshheading:18245139-Adolescent,
pubmed-meshheading:18245139-Adult,
pubmed-meshheading:18245139-Amino Acid Metabolism, Inborn Errors,
pubmed-meshheading:18245139-Brain,
pubmed-meshheading:18245139-Brain Diseases, Metabolic, Inborn,
pubmed-meshheading:18245139-Carrier Proteins,
pubmed-meshheading:18245139-Cerebral Ventricles,
pubmed-meshheading:18245139-Chromosome Aberrations,
pubmed-meshheading:18245139-DNA Mutational Analysis,
pubmed-meshheading:18245139-Female,
pubmed-meshheading:18245139-Follow-Up Studies,
pubmed-meshheading:18245139-Gene Duplication,
pubmed-meshheading:18245139-Genes, Recessive,
pubmed-meshheading:18245139-Heterozygote Detection,
pubmed-meshheading:18245139-Homocystinuria,
pubmed-meshheading:18245139-Humans,
pubmed-meshheading:18245139-Hydroxocobalamin,
pubmed-meshheading:18245139-Infusions, Intravenous,
pubmed-meshheading:18245139-Injections, Intramuscular,
pubmed-meshheading:18245139-Magnetic Resonance Imaging,
pubmed-meshheading:18245139-Male,
pubmed-meshheading:18245139-Methylmalonic Acid,
pubmed-meshheading:18245139-Mutation, Missense,
pubmed-meshheading:18245139-Neurologic Examination,
pubmed-meshheading:18245139-Spinal Cord
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pubmed:year |
2008
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pubmed:articleTitle |
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.
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pubmed:affiliation |
Centre de Génétique, Hôpital d'Enfants, 10 Bd maréchal de Lattre de Tassigny, 21034 Dijon Cedex, France. christel.thauvin@chu-dijon.fr
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pubmed:publicationType |
Journal Article,
Case Reports
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