Detalhe da pesquisa
1.
International Newborn Screening Practices for the Early Detection of Congenital Adrenal Hyperplasia.
Horm Res Paediatr
; 97(2): 113-125, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37231960
2.
Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience.
J Clin Med
; 11(5)2022 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35268460
3.
The presentation of congenital adrenal hyperplasia in an unscreened population.
J Pediatr Endocrinol Metab
; 34(9): 1123-1129, 2021 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34167176
4.
Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis.
JIMD Rep
; 55(1): 26-31, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905056