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Selective screening of amino acid disorders in the south‐west of Iran, Shiraz
Author(s) -
Golbahar J.,
Karamizadeh Z.,
Honardar Z.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1021219805921
Subject(s) - maple syrup urine disease , medicine , southern iran , pediatrics , newborn screening , dried blood spot , dried blood , amino acid analysis , urine , amino acid , chemistry , biology , genetics , biochemistry , chromatography , leucine , art , literature
A diagnostic study of amino acid concentrations in dried blood spot samples from 1044 symptomatic children revealed high incidences of phenylketonuria, tyrosinaemias, and maple syrup urine disease in the Shiraz region of Iran. Minimum incidences, based on babies born between 1996 and 2001 inclusive, and diagnosed by the end of 2001, are 1:3672, 1:10 651 and 1:21 303, respectively.