Biochemical Diagnosis of Genetic Diseases
Author:
Publisher
SLACK, Inc.
Subject
Pediatrics, Perinatology, and Child Health
Reference14 articles.
1. 1. Burton BK. Inborn errors of metabolism: the clinical diagnosis in early infancy Pediatrics. 1987;79:359-369.
2. 2. Ward JC. Inborn errors of metabolism of acute onset in infancy. Pediatr Rev 1990;11:205-206.
3. 3. Waber L. Inborn errors of metabolism. Pedum Ann. 1990;19:105-118.
4. 4. Gregersen N Winter V Andresen BS et al. Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood-spots by a polymerase chain reaction (PCR) assay detecting a point mutation (G985) in the MCAD gene. Clin Chim Acta. 1991;203:23-24.
5. 5. Matsubara Y Narisawa K Tada K et al. Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards. Lancet. 1991;338:552-553.
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