Detalhe da pesquisa
1.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
BMC Pediatr;
24(1): 37, 2024 Jan 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38216926
2.
Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.
Mol Genet Metab;
137(1-2): 164-172, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36087504
3.
Safety issues associated with dietary management in patients with hepatic glycogen storage disease.
Mol Genet Metab;
125(1-2): 79-85, 2018 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30037503
4.
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
5.
Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial.
J Genet Couns;
27(2): 426-438, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28791521
6.
Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.
Biochim Biophys Acta Mol Basis Dis;
1863(2): 386-394, 2017 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27915031
7.
Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses.
Mol Genet Metab;
122S: 49-54, 2017 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28964643
8.
Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses.
Mol Genet Metab;
122S: 8-16, 2017 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29128371
9.
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
10.
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
11.
Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.
J Inherit Metab Dis;
39(1): 139-47, 2016 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26209272
12.
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
Hum Genet;
134(9): 981-91, 2015 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26099313
13.
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
14.
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study.
Am J Med Genet A;
167A(10): 2272-81, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26069231
15.
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.
BMC Pediatr;
15: 7, 2015 Feb 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25886474
16.
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Mol Genet Metab;
112(2): 87-122, 2014 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24667081
17.
Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).
Paediatr Child Health;
24(4): 270-271, 2019 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31239817
18.
Does cardiorespiratory fitness mediate or moderate the association between mid-life physical activity frequency and cognitive function? findings from the 1958 British birth cohort study.
PLoS One;
19(6): e0295092, 2024.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38848437
19.
Current Advances and Material Innovations in the Search for Novel Treatments of Phenylketonuria.
Adv Healthc Mater;
: e2401353, 2024 May 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38801163
20.
Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.
Genet Med;
15(6): 415-22, 2013 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23222662