Detalhe da pesquisa
1.
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Am J Hum Genet
; 104(6): 1127-1138, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155284
2.
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
HGG Adv
; 4(3): 100198, 2023 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37181331
3.
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.
J Pediatr
; 182: 363-370, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939258
4.
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.
Mol Genet Metab
; 95(4): 206-12, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18976948