The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Mol Genet Metab
; 129(3): 171-176, 2020 03.
Article
de En
| MEDLINE
| ID: mdl-31954591
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Fibroblastes
/
Galactose
/
Galactosémies
Type d'étude:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limites:
Female
/
Humans
/
Male
/
Newborn
Langue:
En
Journal:
Mol Genet Metab
Sujet du journal:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Année:
2020
Type de document:
Article
Pays d'affiliation:
Pays-Bas
Pays de publication:
États-Unis d'Amérique