International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
L Welling, LE Bernstein, GT Berry, AB Burlina… - Journal of inherited …, 2017 - Springer
Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based
guidelines for the treatment and follow-up of CG are currently lacking, and treatment and …
guidelines for the treatment and follow-up of CG are currently lacking, and treatment and …
Classical galactosaemia revisited
AM Bosch - Journal of Inherited Metabolic Disease: Official …, 2006 - Wiley Online Library
Classical galactosaemia (McKusick 230400) is an: autosomal recessive disorder of
galactose metabolism, caused by a deficiency of the enzyme galactose‐1‐phosphate …
galactose metabolism, caused by a deficiency of the enzyme galactose‐1‐phosphate …
[KNIHA][B] Developmental neuropsychology: A clinical approach
V Anderson, E Northam, J Wrennall - 2018 - taylorfrancis.com
This fully updated edition of Developmental Neuropsychology: A Clinical Approach
addresses key issues in child neuropsychology with a unique emphasis on evidence …
addresses key issues in child neuropsychology with a unique emphasis on evidence …
Hereditary galactosemia
D Demirbas, AI Coelho, ME Rubio-Gozalbo, GT Berry - Metabolism, 2018 - Elsevier
Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is
metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate …
metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate …
Sweet and sour: an update on classic galactosemia
AI Coelho, ME Rubio-Gozalbo, JB Vicente… - Journal of inherited …, 2017 - Springer
Classic galactosemia is a rare inherited disorder of galactose metabolism caused by
deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of …
deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of …
Disorders of galactose metabolism
GT Berry - Rosenberg's molecular and genetic basis of …, 2015 - Elsevier
A deficiency of each of the three enzymes important in galactose metabolism, galactose-1-
phosphate uridyltransferase (GALT), galactokinase (GALK) and UDP-galactose 4 …
phosphate uridyltransferase (GALT), galactokinase (GALK) and UDP-galactose 4 …
Novel mRNA-based therapy reduces toxic galactose metabolites and overcomes galactose sensitivity in a mouse model of classic galactosemia
B Balakrishnan, D An, V Nguyen, C DeAntonis… - Molecular Therapy, 2020 - cell.com
Classic galactosemia (CG) is a potentially lethal inborn error of galactose metabolism that
results from deleterious mutations in the human galactose-1 phosphate uridylyltransferase …
results from deleterious mutations in the human galactose-1 phosphate uridylyltransferase …
Galactose toxicity in animals
K Lai, LJ Elsas, KJ Wierenga - IUBMB life, 2009 - Wiley Online Library
In most organisms, productive utilization of galactose requires the highly conserved Leloir
pathway of galactose metabolism. Yet, if this metabolic pathway is perturbed due to …
pathway of galactose metabolism. Yet, if this metabolic pathway is perturbed due to …
Inherited metabolic disorders: Aspects of chronic nutrition management
SW Boyer, LJ Barclay… - Nutrition in Clinical Practice, 2015 - Wiley Online Library
The introduction of newborn screening and the development of new therapies have led to an
expanding population of patients with inherited metabolic disorders, and these patients are …
expanding population of patients with inherited metabolic disorders, and these patients are …
Outcomes of siblings with classical galactosemia
J Hughes, S Ryan, D Lambert, O Geoghegan… - The Journal of …, 2009 - Elsevier
OBJECTIVES: To determine the long-term outcome of dietary intervention in siblings from 14
Irish families with classical galactosemia (McKusick 230400), an autosomal recessive …
Irish families with classical galactosemia (McKusick 230400), an autosomal recessive …