Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis.
Children
Drug- resistant epilepsy
Neurodegenerative disorders
Purine metabolism
Retinopathy
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
20
05
2019
revised:
07
08
2019
accepted:
07
08
2019
entrez:
31
8
2019
pubmed:
31
8
2019
medline:
31
8
2019
Statut:
epublish
Résumé
We describe a 7-year-old boy presenting with a developmental encephalopathy, severe epilepsy, retinopathy with salt and pepper fundus, and ultrastructural skin alterations resembling a neuronal ceroid lipofuscinosis. Whole exome-sequencing detected biallelic variants in the
Identifiants
pubmed: 31467849
doi: 10.1016/j.ymgmr.2019.100502
pii: S2214-4269(19)30081-3
pii: 100502
pmc: PMC6713842
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100502Références
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