Detalhe da pesquisa
1.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
J Inherit Metab Dis;
46(2): 232-242, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36515074
2.
Preterm Singleton Birth Rate during the COVID-19 Lockdown: A Population-Based Study.
Am J Perinatol;
39(9): 1020-1026, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34891197
3.
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
J Inherit Metab Dis;
44(3): 606-617, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33190319
4.
Hereditary orotic aciduria identified by newborn screening.
Front Genet;
14: 1135267, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36999056
5.
Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel.
J Allergy Clin Immunol Pract;
10(10): 2722-2731.e9, 2022 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35487367
6.
Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Eur J Med Genet;
63(6): 103901, 2020 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32151765
7.
First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.
Front Immunol;
8: 1448, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29167666