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Article

Effect of genotype on galactose-1-phosphate in classic galactosemia patients.

Molecular genetics and metabolism - 1 Nov 2018

Yuzyuk Tatiana, Balakrishnan Bijina, Schwarz Elizabeth L, De Biase Irene, Hobert Judith, Longo Nicola, Mao Rong, Lai Kent, Pasquali Marzia

Abstract excerpt

Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes classic galactosemia (OMIM 230400), characterized by the accumulation of galactose-1-phosphate (GAL1P) in patients' red blood cells (RBCs). Our recent study demonstrated a correlation between RBC GAL1P and long-term outcomes in galactosemia patients. Here, we analyze biochemical and molecular results in 77 classic galactosemia patients to...

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Source

Identifiers

PMID: 30172461
DOI: 10.1016/j.ymgme.2018.08.012

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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