Detalhe da pesquisa
1.
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.
Am J Med Genet A
; 173(6): 1601-1606, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544736
2.
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
J Am Soc Nephrol
; 25(3): 574-86, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24204001
3.
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
Orphanet J Rare Dis
; 7: 30, 2012 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-22630369
4.
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.
Am J Med Genet A
; 126A(4): 333-8, 2004 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15098231
5.
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
Pediatrics
; 112(2): 332-40, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12897283