Detalhe da pesquisa
1.
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
J Inherit Metab Dis
; 43(4): 671-693, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266963
2.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773687
3.
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
J Inherit Metab Dis
; 37(5): 831-40, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599607