Detalhe da pesquisa
1.
Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency.
Ann Allergy Asthma Immunol
; 129(6): 776-783.e2, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35914665
2.
A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.
Am J Med Genet A
; 182(11): 2704-2708, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820583
3.
Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I.
Int J Neonatal Screen
; 9(1)2023 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36975849