Last Posted: Jun 19, 2019
- Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.
Ohlsson Annika, et al. Journal of inherited metabolic disease 2019 6
- Developmental Outcomes in Duarte Galactosemia.
Carlock Grace et al. Pediatrics 2018 Dec
- Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study.
- Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead.
- Detection of common mutations in the GALT gene through ARMS.
Mahmood Umair, et al. Gene 2012 11 (2) 291-4
- Duarte Galactosemia
From NCATS Genetic and Rare Diseases Information Center
- Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.
Lukac-Bajalo Jana, et al. Clinical chemistry and laboratory medicine : CCLM / FESCC 2002 11 (11) 1109-13
- Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.
Item Chike, et al. Pediatric research 2002 4 (4) 511-6
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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- Alpha-1 Antitrypsin Deficiency
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