A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.
Clin Neurol Neurosurg
; 202: 106506, 2021 Mar.
Article
in En
| MEDLINE
| ID: mdl-33497949
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Purine-Pyrimidine Metabolism, Inborn Errors
/
Respiratory Distress Syndrome, Newborn
/
Autistic Disorder
/
Developmental Disabilities
/
Adenylosuccinate Lyase
/
Epilepsy
/
Lissencephaly
/
Agenesis of Corpus Callosum
/
Muscle Hypotonia
Type of study:
Diagnostic_studies
Limits:
Humans
/
Male
/
Newborn
Language:
En
Journal:
Clin Neurol Neurosurg
Year:
2021
Document type:
Article