Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
J Inherit Metab Dis
; 45(4): 804-818, 2022 07.
Article
in En
| MEDLINE
| ID: mdl-35383965
Key words
Full text:
1
Collection:
01-internacional
Health context:
2_ODS3
Database:
MEDLINE
Main subject:
Rhabdomyolysis
/
Hypoglycemia
/
Lipid Metabolism, Inborn Errors
/
Cardiomyopathies
Type of study:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Screening_studies
Limits:
Humans
/
Newborn
Country/Region as subject:
Europa
Language:
En
Journal:
J Inherit Metab Dis
Year:
2022
Document type:
Article