Mutational spectrum of classical galactosaemia in Spain and Portugal
Laura Gort(Centre for Biomedical Network Research on Rare Diseases), P. Briones, Ma Dolores Boleda, Isabel Rivera(University of Lisbon), Laura Vilarinho(National Institute of Health Dr. Ricardo Jorge), M. Santos‐Leite, Linda Tyfield(Baylor College of Medicine), M. Girós(Corporació Sanitària Parc Taulí), Maria Luı́s Cardoso(Centro de Genética Clínica)
Cited by 22
Related Papers
Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria.
|Archives of Disease in Childhood|1993|253
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene
|Human Mutation|1999|164
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder
|Screening|1993|161
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
|Journal of Inherited Metabolic Disease|2019|149
The natural history of classic galactosemia: lessons from the GalNet registry
|Orphanet Journal of Rare Diseases|2019|147