Detalhe da pesquisa
1.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37531237
2.
Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency.
JIMD Rep
; 45: 9-20, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30209782