Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

(2016) Lindsey Welling et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Effects of temporary low-dose galactose supplements in children aged 5–12 y with classical galactosemia: a pilot study

(2015) Ina Knerr et al.   PEDIATRIC RESEARCH

A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia

(2014) Sandra C. Van Calcar et al.   MOLECULAR GENETICS AND METABOLISM

Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency

(2014) Peter Schadewaldt et al.   ARCHIVES OF PHYSIOLOGY AND BIOCHEMISTRY

Modifiers of Ovarian Function in Girls and Women With Classic Galactosemia

(2013) Jessica B. Spencer et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia

(2013) Emily L. Ryan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

N-Glycan Abnormalities in Children with Galactosemia

(2013) Karen P. Coss et al.   JOURNAL OF PROTEOME RESEARCH

Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment

(2012) K. P. Coss et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

(2012) Patricia P. Jumbo-Lucioni et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Galactosemia, a Single Gene Disorder With Epigenetic Consequences

(2010) David J Coman et al.   PEDIATRIC RESEARCH

Outcomes of Siblings with Classical Galactosemia

(2009) Joanne Hughes et al.   JOURNAL OF PEDIATRICS

Biomarkers of ovarian function in girls and women with classic galactosemia

(2008) Rebecca D. Sanders et al.   FERTILITY AND STERILITY