Results 61 to 70 of about 3,475 (159)

Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Classical Galactosaemia (CG) is an inborn error of carbohydrate metabolism. In untreated neonates, CG leads to a multi‐organ toxicity with life‐threatening symptoms. Newborn Screening for CG began in the Republic of Ireland in 1972. In Ireland, two forms of neonatal screening occur. High‐risk infants are fed lactose‐free/galactose‐free formula
D. Pereira, E. Loftus, C. E. Thompson, F. Boyle, J. McNulty, R. Boruah, E. Crushell, C. Howard, J. Hughes, A. A. Monavari, E. P. Treacy, A. Beegan, N. Jordan, Y. Rogers, A. Collins, J. J. Brady, M. Elsammak, P. D. Mayne, I. Knerr   +18 more
wiley   +1 more source

Comparison of the Enzymatic-Activities of Human Galactokinase Galk1 and a Related Human Galactokinase Protein GK2

Biochemical and Biophysical Research Communications, 1995
The GALK1 cDNA encoding human galactokinase was recently cloned and its cognate GALK1 gene shown to be involved in galactokinase deficient galactosemia. Previously, a separate human galactokinase cDNA, GK2, was cloned by complementation of a galactokinase deficient yeast mutant; however, the galactokinase activity of GK2 was not demonstrated in ...
Y, Ai, M, Basu, D J, Bergsma, D, Stambolian   +3 more
openaire   +2 more sources

Galactokinase deficiency [PDF]

, 2020
openaire   +3 more sources

The Time-Resolved Salt Stress Response of Dunaliella tertiolecta-A Comprehensive System Biology Perspective. [PDF]

Int J Mol Sci, 2023
Keil L, Mehlmer N, Cavelius P, Garbe D, Haack M, Ritz M, Awad D, Brück T.   +7 more
europepmc   +1 more source

Galactose induces formation of cell wall stubs and cell death in Arabidopsis roots. [PDF]

Planta, 2022
Höftberger M, Althammer M, Foissner I, Tenhaken R.   +3 more
europepmc   +1 more source

Mammalian Galactokinase

Journal of Biological Chemistry, 1965
Pedro Cuatrecasas, Stanton Segal
openaire   +1 more source

Galactokinase 1 Inhibition-Induced Cell Cycle Arrest and Apoptosis in Bladder Cancer Cells Is Associated with AKT Signaling Downregulation. [PDF]

Int J Mol Sci
Singh SP, Liu R, Yan F, Tang Q, Rao CV, Madka V.   +5 more
europepmc   +1 more source

Moonlighting Proteins: Diverse Functions Found in Fungi. [PDF]

J Fungi (Basel), 2023
Curtis NJ, Patel KJ, Rizwan A, Jeffery CJ.   +3 more
europepmc   +1 more source

Cell-specific responses of Anopheles gambiae fat body to blood feeding and infection at single-nuclei resolution. [PDF]

Nat Commun
de Carvalho SS, McNinch C, Barletta AF, Barillas-Mury C.   +3 more
europepmc   +1 more source

The galactokinase enzyme of yeast senses metabolic flux to stabilize galactose pathway regulation. [PDF]

Nat Metab
Palme J, Li A, Springer M.
europepmc   +1 more source