The natural history of classic galactosemia: lessons from the GalNet registry

Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia

(2018) Allison B. Frederick et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Hereditary galactosemia

(2018) Didem Demirbas et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

(2018) Hugh-Owen Colhoun et al.   Orphanet Journal of Rare Diseases

Fertility in adult women with classic galactosemia and primary ovarian insufficiency

(2017) Britt van Erven et al.   FERTILITY AND STERILITY

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

(2017) Allison B. Frederick et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes

(2017) Lindsey Welling et al.   MOLECULAR GENETICS AND METABOLISM

Worldwide prevalence and incidence of osteoporotic vertebral fractures

(2017) G. Ballane et al.   OSTEOPOROSIS INTERNATIONAL

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

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

The galactosemia network (GalNet)

(2016) M. E. Rubio-Gozalbo 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

Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?

(2014) K.P. Coss et al.   MOLECULAR GENETICS AND METABOLISM

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

Movement Disorders in Adult Patients With Classical Galactosemia

(2013) Ignacio Rubio-Agusti et al.   MOVEMENT DISORDERS

The importance of patient registries for rare diseases

(2013) Ana Maria Martins et al.   Expert Opinion on Orphan Drugs

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

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

The male reproductive system in classic galactosemia: cryptorchidism and low semen volume

(2012) Cynthia S. Gubbels et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Standard Operating Procedures: Pubertas Tarda/Delayed Puberty—Male

(2012) Mario Maggi et al.   Journal of Sexual Medicine

Galactosemia: When is it a newborn screening emergency?

(2012) Gerard T. Berry   MOLECULAR GENETICS AND METABOLISM

Skeletal health in adult patients with classic galactosemia

(2012) L. A. Batey et al.   OSTEOPOROSIS INTERNATIONAL

Psychosocial developmental milestones in men with classic galactosemia

(2011) Cynthia Sophia Gubbels et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?

(2011) Gerard T. Berry   JOURNAL OF INHERITED METABOLIC DISEASE

The adult galactosemic phenotype

(2011) Susan E. Waisbren et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control

(2011) K. Krabbi et al.   MOLECULAR GENETICS AND METABOLISM

IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia

(2011) K.P. Coss et al.   MOLECULAR GENETICS AND METABOLISM

Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia

(2010) Gerard T. Berry et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Ovarian function in girls and women with GALT-deficiency galactosemia

(2010) Judith L. Fridovich-Keil et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Galactosemia, a Single Gene Disorder With Epigenetic Consequences

(2010) David J Coman et al.   PEDIATRIC RESEARCH

Vitamin D and adolescents: what do we know?

(2009) Nava Stoffman et al.   CURRENT OPINION IN PEDIATRICS

Gonadal function in male and female patients with classic galactosemia

(2009) M.E. Rubio-Gozalbo et al.   HUMAN REPRODUCTION UPDATE

Outcomes of Siblings with Classical Galactosemia

(2009) Joanne Hughes et al.   JOURNAL OF PEDIATRICS