Results 161 to 164 of about 8,693 (164)

A Case of Classical Galactosemia: Identification and Characterization of 3 Distinct Mutations in Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in a Single Family

Indian Journal of Pediatrics, 2010
, Rajendra Prasad, Gurjit Kaur
exaly  

Galactosemia: deletion in the 5′ upstream region of the GALT gene reduces promoter efficiency

Human Genetics, 2014
exaly  

A patient with a novel mutation in the GALT gene and initially misdiagnosed with a Congenital Glycolysation Defect

2015
ÜNAL, SEVİM, ÖZAYDIN, EDA, KOÇ, NEVRA, GÜNDÜZ, MEHMET, KIRSAÇLIOĞLU, CEYDA, ÜNAL, ÖZLEM   +5 more
openaire   +1 more source

Mutational analysis of the galactose-1-phosphate uridyltransferase (GALT) gene in southeast part of Turkey: a regional report.

Genetic counseling (Geneva, Switzerland), 2015
M, Akar, M, Celik, C S, Kasapkara, M N, Ozbek, B, Aldudak, H, Tuzun   +5 more
openaire   +1 more source