Detalhe da pesquisa
1.
Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy.
J Pediatr Hematol Oncol
; 44(8): 471-473, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35700406
2.
Lesch-Nyhan syndrome due to a splice-site mutation in a 14-month-old boy presenting as acute renal failure.
Clin Nephrol
; 96(2): 120-123, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33993907
3.
X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia.
Bone Rep
; 20: 101731, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38226334
4.
Late diagnosis of 3ß-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene.
J Pediatr Endocrinol Metab
; 34(1): 131-136, 2021 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33180036