Detalhe da pesquisa
1.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet;
108(12): 2368-2384, 2021 12 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34800363
2.
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Mol Genet Metab;
116(3): 146-51, 2015 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26361991
3.
Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism.
Mol Genet Metab Rep;
25: 100654, 2020 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33042776
4.
Psychosocial impact on mothers receiving expanded newborn screening results.
Eur J Hum Genet;
26(4): 477-484, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29379194