Pathophysiology of long-term complications in classic galactosemia: What we do and do not know
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference97 articles.
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5. Classical galactosaemia revisited;Bosch;J. Inherit. Metab. Dis.,2006
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1. Galactose-1-phosphate inhibits cytochrome c oxidase and causes mitochondrial dysfunction in classic galactosemia;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-10
2. Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT‐null D. Melanogaster model of classic galactosemia;Journal of Inherited Metabolic Disease;2024-07-03
3. Galactokinase 1 is the source of elevated galactose‐1‐phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia;JIMD Reports;2024-06-23
4. 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;2024-03
5. Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients;JIMD Reports;2024-01-09
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