Detalhe da pesquisa
1.
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil.
J Inherit Metab Dis
; 45(2): 340-352, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34910312
2.
Cardiac rhythm abnormalities - An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses.
Mol Genet Metab
; 130(2): 133-139, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32241717
3.
Challenges in diagnosing and managing adult patients with urea cycle disorders.
J Inherit Metab Dis
; 42(6): 1136-1146, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30932189
4.
Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.
Mol Genet Metab
; 124(2): 152-160, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29716835
5.
Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.
Mol Genet Metab
; 123(2): 127-134, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29248359
6.
Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages.
Mol Genet Metab
; 120(3): 180-189, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27993458
7.
Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.
Am J Med Genet A
; 173(2): 375-383, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27774754
8.
A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II.
Genet Med
; 18(1): 73-81, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25834948
9.
Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.
Mol Genet Metab
; 117(4): 413-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26873529
10.
Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP).
Mol Genet Metab
; 118(4): 310-8, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27339555
11.
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Mol Genet Metab
; 118(4): 244-54, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27339554
12.
Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.
Mol Genet Metab
; 119(1-2): 131-43, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27380995
13.
Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.
J Inherit Metab Dis
; 39(6): 839-847, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27553181
14.
Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.
Mol Genet Metab
; 114(2): 178-85, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25284089
15.
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.
Mol Genet Metab
; 114(1): 11-8, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25496828
16.
Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.
Mol Genet Metab
; 114(2): 186-94, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25582974
17.
International guidelines for the management and treatment of Morquio A syndrome.
Am J Med Genet A
; 167A(1): 11-25, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25346323
18.
The principles of the transition process from paediatric to adult services in inborn errors of metabolism--own experience.
Dev Period Med
; 19(4): 523-7, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26982766
19.
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency--diagnostic difficulties and own experience in multidisciplinary management.
Dev Period Med
; 19(4): 450-3, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26982752
20.
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.
J Inherit Metab Dis
; 37(1): 93-101, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23793527