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Galaktoz-1-Fosfat Üridil Transferaz (GPUT)

Sanal Hastane||1 dk okuma
Galaktoz-1-Fosfat Üridil  Transferaz  (GPUT)

Klinik kullanım :

Galaktozeminin en yaygın nedeninin tanısında kullanılır.

Referans değerler

Negatif 18.5-28.5 u/g Hemoglobin

Kaynaklar ve Referanslar

  1. [1]Richardson BJ, Inglis B, Poole WE, et al. Galactose-1 phosphate uridyl transferase deficiency in the western grey kangaroo (Macropus fuliginosus; marsupialia): a model system for gene therapy studies.”. The Australian journal of experimental biology and medical science. 1979. PMID: 383061. PubMed →
  2. [2]Kumari N, Sarma MS, Srivastava A, Yachha SK, Poddar U, Mathias A. Hepatic and Extra-hepatic Outcomes of Classical Galactosemia in Infants: A Longitudinal Observational Study.”. Journal of clinical and experimental hepatology. 2026. PMID: 41859485. PubMed →
  3. [3]Li D, Mao W, Ma Q, et al. [Galactose-1-phosphate uridyl transferase and congenital cataract].”. Yan ke xue bao = Eye science. 1991. PMID: 1844060. PubMed →
  4. [4]Wang YC, Lan LC, Yang X, Xiao J, Liu HX, Shan QW. A case report of classic galactosemia with a GALT gene variant and a literature review.”. BMC pediatrics. 2024. PMID: 38778342. PubMed →
  5. [5]Stevens RE, Datiles MB, Srivastava SK, et al. Idiopathic presenile cataract formation and galactosaemia.”. The British journal of ophthalmology. 1989. PMID: 2537652. PubMed →
  6. [6]Almenabawy N, Bahl S, Ostlund AL, Ghai-Jain S, Sosova I, Chan A, Mercimek-Andrews S. Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.”. Molecular genetics and metabolism reports. 2024. PMID: 38469090. PubMed →
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