Detalhe da pesquisa
1.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
J Inherit Metab Dis
; 46(2): 300-312, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651831
2.
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Am J Med Genet A
; 185(1): 213-218, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33044030
3.
Feeding difficulty and gastrostomy tube placement in infants with Down syndrome.
Eur J Pediatr
; 179(6): 909-917, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31984440
4.
p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease.
JIMD Rep
; 54(1): 32-36, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32685348
5.
The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.
Mol Genet Genomic Med
; 8(4): e1172, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32067425