Results 121 to 130 of about 3,704 (134)
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Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia

Journal of Inherited Metabolic Disease, 2022
M Estela Rubio-Gozalbo   +2 more
exaly  

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose‐1‐phosphate uridyltransferase (GALT) deficiency

Human Mutation, 1996
Maceratesi, P   +6 more
openaire   +4 more sources

A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT‐null rat pups

Journal of Inherited Metabolic Disease, 2021
Judith Fridovich-Keil
exaly  

Development, optimization and validation of LC-MS/MS method for the determination of DBS GALT enzyme activity

Analytical Biochemistry, 2023
Erhan Canbay, Ebru Sezer
exaly  

Prenatal diagnosis of galactose‐1‐phosphate uridyltransferase (GALT)‐deficient galactosemia

Prenatal Diagnosis, 2001
openaire   +2 more sources

Galactose 1‐phosphate accumulates to high levels in galactose‐treated cells due to low GALT activity and absence of product inhibition of GALK

Journal of Inherited Metabolic Disease, 2020
Sher Li Oh, Thilo Hagen
exaly  

Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia

Journal of Inherited Metabolic Disease, 2022
Judith Fridovich-Keil
exaly  

Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish

Journal of Inherited Metabolic Disease, 2020
M Estela Rubio-Gozalbo   +2 more
exaly  

Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation

Scandinavian Journal of Clinical and Laboratory Investigation, 2017
Kostas Iákovou   +2 more
exaly  

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

Human Mutation, 1999
Juergen Reichardt   +2 more
exaly  
galactosemia
classic galactosemia
classical galactosemia
neuropsychology
newborn screening
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