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Orphanet Journal of Rare Diseases|August 26, 2018
Profiling of intracellular metabolites produced from galactose and its potential for galactosemia researchMichel van Weeghel, Lindsey Welling, Eileen P Treacy, et al.
JIMD Reports|February 23, 2013
Leptin levels in children and adults with classic galactosaemiaIna Knerr, Karen P Coss, Peter P Doran, et al.
BMC Medical Genetics|December 6, 2005
Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in CaucasiansCiara Dolan, Denis C Shields, Alice Stanton, et al.
Annals of Clinical Biochemistry|February 16, 2018
Validation of an automated ultraperformance liquid chromatography IgG N-glycan analytical method applicable to classical galactosaemiaHugh Owen Colhoun, Eileen P Treacy, Marguerite MacMahon, et al.
JIMD Reports|January 3, 2018
Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1Karolina M Stepien, Gregory M Pastores, Una Hendroff, et al.
The Journal of Pediatrics|February 3, 2009
Outcomes of siblings with classical galactosemiaJoanne Hughes, Stephanie Ryan, Deborah Lambert, et al.
JIMD Reports|June 27, 2019
The genetic and biochemical basis of trimethylaminuria in an Irish cohortSamantha Doyle, James J O'Byrne, Mandy Nesbitt, et al.
Pediatric Research|December 3, 2009
Galactosemia, a single gene disorder with epigenetic consequencesDavid J Coman, David W Murray, Jennifer C Byrne, et al.
JIMD Reports|October 1, 2015
IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical GalactosaemiaHenning Stockmann, Karen P Coss, M Estela Rubio-Gozalbo, et al.
Food Science & Nutrition|November 9, 2022
Determination of the lactose and galactose content of common foods: Relevance to galactosemiaLoai A Shakerdi, Leonie Wallace, Georgina Smyth, et al.
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