نتایج جستجو برای: glutaric aciduria
تعداد نتایج: 1568 فیلتر نتایج به سال:
Most local health authorities in Great Britain have used the Phenistix test on wet napkins or diapers (napkin-Phenistix test) to screen all young infants for phenylketonuria (Centerwall et al., 1963). This test is a sensitive and reliable method of detecting phenylpyruvic aciduria (Gibbs and Woolf, 1959; Woolf, 1963), which is an early sign of true phenylketonuria (Allen et al., 1964; Berry and...
Glutaric aciduria type 1 (GA1) is a rare, inherited mitochondrial disorder that results from deficiency of mitochondrial glutaryl-CoA dehydrogenase. Most patients develop neurological dysfunction early in life, which leads to severe disabilities. We present a 37-month-old girl with GA1 manifested as macrocephaly and hypotonia who received comprehensive dental restoration surgery under general a...
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