The adult galactosemic phenotype

Quantification of Galactose-1-Phosphate Uridyltransferase Enzyme Activity by Liquid Chromatography-Tandem Mass Spectrometry

(2010) Y. Li et al.   CLINICAL CHEMISTRY

The neuropsychological profile of galactosaemia

(2010) Claire M. Doyle et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The GALT rush: High carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population

(2010) Nurit Goldstein et al.   MOLECULAR GENETICS AND METABOLISM

Longitudinal Assessment of Intellectual Achievement in Patients With Classical Galactosemia

(2010) P. Schadewaldt et al.   PEDIATRICS

Serum markers of bone turnover in children and adolescents with classic galactosemia

(2009) J Gajewska et al.   Advances in Medical Sciences

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

FDG-PET findings in patients with galactosaemia

(2008) J. G. Dubroff et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Correlates of language impairment in children with galactosaemia

(2008) N. L. Potter et al.   JOURNAL OF INHERITED METABOLIC DISEASE