Detalhe da pesquisa
1.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(2): 245-260, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057031
2.
Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I.
Mol Genet Metab
; 129(2): 91-97, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630958
3.
Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
Mol Genet Metab
; 129(2): 80-90, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31839529
4.
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
Genet Med
; 21(4): 1008-1014, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30166628
5.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(3): 456, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193138
6.
Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.
Mol Genet Metab
; 116(1-2): 69-74, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26260077
7.
Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1.
Mol Genet Metab
; 116(1-2): 75-9, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26189084
8.
Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I.
Mol Genet Metab
; 101(2-3): 115-22, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20655780
9.
Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy.
Clin Chim Acta
; 508: 179-184, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442432
10.
Intrathecal enzyme replacement therapy for mucopolysaccharidosis I: translating success in animal models to patients.
Curr Pharm Biotechnol
; 12(6): 946-55, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21506913
11.
Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I.
Sci Transl Med
; 2(60): 60ra89, 2010 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21123810
12.
Update on pediatric epilepsy.
Adv Pediatr
; 58(1): 259-76, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21736985