Verbal Dyspraxia and Galactosemia
- 1 March 2003
- journal article
- clinical trial
- Published by Springer Nature in Pediatric Research
- Vol. 53 (3) , 396-402
- https://doi.org/10.1203/01.pdr.0000049666.19532.1b
Abstract
Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and in vitro techniques relevant to developmental biology and medicine are acceptable, as are translational human studies.Keywords
This publication has 32 references indexed in Scilit:
- Structure-Function Analyses of a Common Mutation in Blacks with Transferase-Deficiency GalactosemiaMolecular Genetics and Metabolism, 2001
- Overexpression of Human UDP-Glucose Pyrophosphorylase Rescues Galactose-1-Phosphate Uridyltransferase-Deficient YeastBiochemical and Biophysical Research Communications, 2000
- Altered Follicle Stimulating Hormone Isoforms in Female Galactosaemia PatientsEuropean Journal of Pediatrics, 1997
- Neuropsychological and linguistic follow‐up studies of children with galactosaemia from an unscreened populationActa Paediatrica, 1996
- A prevalent mutation for galactosemia among black AmericansThe Journal of Pediatrics, 1996
- Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase geneThe Journal of Pediatrics, 1994
- The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose‐1‐phosphate uridyltransferase deficiencyJournal of Inherited Metabolic Disease, 1992
- Characterization of a novel biochemical abnormality in galactosemia: Deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytesBiochemical Medicine and Metabolic Biology, 1991
- Long‐term prognosis in galactosaemia: Results of a survey of 350 casesJournal of Inherited Metabolic Disease, 1989
- Deficit of uridine diphosphate galactose in galactosaemiaJournal of Inherited Metabolic Disease, 1989