نتایج جستجو برای: glutaric aciduria

تعداد نتایج: 1568  

Journal: :Medical Herald of the South of Russia 2020

Journal: :British medical journal 1967
J B Stephenson M S McBean

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...

Journal: :Journal of the Chinese Medical Association : JCMA 2014
Wei-Nung Teng Su-Man Lin Dau-Ming Niu Yi-Min Kuo Kwok-Hon Chan Chun-Sung Sung

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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