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
in En
| MEDLINE
| ID: mdl-31954591
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Fibroblasts
/
Galactose
/
Galactosemias
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limits:
Female
/
Humans
/
Male
/
Newborn
Language:
En
Journal:
Mol Genet Metab
Journal subject:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Year:
2020
Document type:
Article
Affiliation country:
Country of publication: