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Therapies for galactosemia: a patent landscape
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Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)
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Cryopreservation of ovarian tissue may be considered in young girls with galactosemia
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Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2
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Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects
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JOURNAL OF INHERITED METABOLIC DISEASE (2018)
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Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia
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ORPHANET JOURNAL OF RARE DISEASES (2018)
Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants
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JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Sweet and sour: an update on classic galactosemia
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JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Reversal of aberrant PI3K/Akt signaling by Salubrinal in a GalT-deficient mouse model
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The selective detection of galactose based on boronic acid functionalized fluorescent carbon dots
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ANALYTICAL METHODS (2016)
Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts
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BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2016)
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase
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HUMAN MOLECULAR GENETICS (2016)
Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: Structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene
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GENE (2015)
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Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia
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ORPHANET JOURNAL OF RARE DISEASES (2013)
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes
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Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors
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IUBMB LIFE (2009)
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MOLECULAR GENETICS AND METABOLISM (2008)
Fertility and impact of pregnancies on the mother and child in classic galactosemia
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Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model
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MOLECULAR GENETICS AND METABOLISM (2007)
Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene
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GENETICS IN MEDICINE (2006)
Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia
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MOLECULAR GENETICS AND METABOLISM (2005)
A selective inhibitor-of eIF2α dephosphorylation protects cells from ER stress
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SCIENCE (2005)
Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia
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MOLECULAR GENETICS AND METABOLISM (2005)
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe
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PEDIATRIC RESEARCH (2002)
Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: Determination by gas chromatography /mass spectrometry
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Molecular basis of disorders of human galactose metabolism: Past, present, and future
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MOLECULAR GENETICS AND METABOLISM (2000)