Detalhe da pesquisa
1.
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
Am J Med Genet A
; 182(7): 1796-1800, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32420688
2.
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
J Inherit Metab Dis
; 39(3): 331-340, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27038030
3.
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.
Mol Genet Genomic Med
; 6(3): 382-392, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29529714
4.
Brain MRI and magnetic resonance spectroscopy findings in patients with hyperargininemia.
J Neuroimaging
; 24(2): 155-60, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-22928720
5.
Clinical features and neurologic progression of hyperargininemia.
Pediatr Neurol
; 46(6): 369-74, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22633632
6.
Avaliação de anticoagulantes naturais e de fatores da coagulação em pacientes com distúrbios congênitos de glicosilação (DCG) tipo I / An evaluation of natural anticoagulants and coagulation factors in patients with congenital disorders of glycosylation type I
Rev. bras. hematol. hemoter
; 32(2): 131-135, 2010. graf, ilus, tab
Artigo
Português
| LILACS | ID: lil-553485
7.
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.
Mol Genet Metab
; 78(1): 37-43, 2003 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-12559846