Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
J Inherit Metab Dis
; 43(4): 694-700, 2020 07.
Article
in En
| MEDLINE
| ID: mdl-32216104
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Congenital Disorders of Glycosylation
/
Copper
/
Vacuolar Proton-Translocating ATPases
/
Immunologic Deficiency Syndromes
/
Liver Diseases
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
J Inherit Metab Dis
Year:
2020
Document type:
Article
Affiliation country:
Czech Republic