Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients

Glutaric acidemia I (GA I, #231670) is one of the treatable, autosomal recessively inherited metabolic disorders. Macrocephaly, acute encephalitis-like crises, dystonia and characteristic frontotemporal atrophy are the hallmarks of this disease. In this communication, we present the clinical, bioche...

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Vydáno v:JIMD Rep
Hlavní autoři: Gupta, Neerja, Singh, Pawan Kumar, Kumar, Manoj, Shastri, Shivaram, Gulati, Sheffali, Kumar, Atin, Agarwala, Anuja, Kapoor, Seema, Nair, Mohandas, Sapra, Savita, Dubey, Sudhisha, Singh, Ankur, Kaur, Punit, Kabra, Madhulika
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4470956/
https://ncbi.nlm.nih.gov/pubmed/25762492
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_377
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