6-Pyruvoyltetrahydropterin synthase deficiency diagnosed in tandem mass spectrometry-based newborn screening

M., Al Essa; P.T., Ozand; M.S., Rashed

M., Al Essa; P.T., Ozand; M.S., Rashed.

EMHJ-Eastern Mediterranean Health Journal. 1998; 4 (3): 593-596

in English | IMEMR | ID: emr-156574

Subject(s)

Female; Humans; Genetic Diseases, Inborn/chemically induced; Genes, Recessive/genetics; Neonatal Screening; Tandem Mass Spectrometry; Tyrosine/chemistry

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Index: IMEMR (Eastern Mediterranean) Main subject: Tyrosine / Neonatal Screening / Tandem Mass Spectrometry / Genes, Recessive / Genetic Diseases, Inborn Type of study: Case report / Screening study Limits: Female / Humans Language: English Journal: East Mediterr Health J. Year: 1998

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