Detalhe da pesquisa
1.
Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
Pediatr Int
; 66(1): e15726, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38299772
2.
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.
J Inherit Metab Dis
; 46(5): 943-955, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37276053
3.
Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.
Mol Genet Metab
; 136(1): 28-37, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35331634
4.
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Cardiol Young
; 32(3): 364-373, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34420548
5.
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
Genet Med
; 23(5): 845-855, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495531
6.
Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study.
J Inherit Metab Dis
; 44(1): 253-263, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32885845
7.
Prenatal diagnosis of diencephalic-mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes.
Prenat Diagn
; 41(6): 778-790, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33522008
8.
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
BMC Pediatr
; 21(1): 22, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33407268
9.
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Am J Med Genet A
; 182(5): 1167-1176, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32181591
10.
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Genet Med
; 21(11): 2543-2551, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31086307
11.
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Genet Med
; 21(4): 887-895, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30214072
12.
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII.
Am J Med Genet A
; 179(3): 486-493, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30653816
13.
Cornelia de Lange syndrome in diverse populations.
Am J Med Genet A
; 179(2): 150-158, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30614194
14.
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).
J Inherit Metab Dis
; 42(1): 169-177, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740733
15.
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Genet Med
; 20(10): 1284-1294, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565424
16.
Williams-Beuren syndrome in diverse populations.
Am J Med Genet A
; 176(5): 1128-1136, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681090
17.
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects.
J Med Genet
; 54(12): 825-829, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28592524
18.
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
19.
Do the data really support ordering fragile X testing as a first-tier test without clinical features?
Genet Med
; 19(12): 1317-1322, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28541279
20.
Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.
Mol Genet Metab
; 117(2): 66-83, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26597321