Duarte Galactosemia
What's New
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 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
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last updated:May 18, 2024
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