Konu "GALT variations" için PubMed İndeksli Yayınlar Koleksiyonu listeleme
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Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
(Walter De Gruyter Gmbh, 2019)Classical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of ...