Detalhe da pesquisa
1.
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.
Mol Genet Metab
; 134(1-2): 60-64, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34389248
2.
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Mol Genet Metab
; 99(3): 263-8, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20036593
3.
The genetic basis for bronchopulmonary dysplasia.
Front Biosci
; 11: 1854-60, 2006 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16368561
4.
Screening for GALC to make neonatal diagnosis and initial neonatal stem cell treatment with umbilical cord blood.
Pediatr Transplant
; 7(2): 83-5, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12654046