Detalhe da pesquisa
1.
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.
Int J Neonatal Screen
; 10(1)2024 Mar 13.
Artigo
Inglês
| MEDLINE | ID: mdl-38535128
2.
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.
Int J Neonatal Screen
; 10(1)2023 Dec 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38248630
3.
Co-designing Improved Communication of Newborn Bloodspot Screening Results to Parents: Mixed Methods Study.
J Particip Med
; 14(1): e33485, 2022 Jul 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35896023
4.
Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers.
Diabetes Care
; 28(7): 1751-6, 2005 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-15983330
5.
Weight loss increases 11beta-hydroxysteroid dehydrogenase type 1 expression in human adipose tissue.
J Clin Endocrinol Metab
; 89(6): 2711-6, 2004 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-15181046
6.
Elevated phenylalanine on newborn screening: follow-up testing may reveal undiagnosed galactosaemia.
Ann Clin Biochem
; 47(Pt 6): 567-9, 2010 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-20947531