Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy
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منابع مشابه
Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy
This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with non-ketotic hyperglycinemia by elevated glycine levels and mutations in the GLDC gene (paternal allele: c.1576_1577insC delT and c.1580delGinsCAA; p.S527Tfs*13, and maternal allele: c.1819G>A; p.G607S). At 8 years of age after having been p...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2014
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2014.04.007