Detalhe da pesquisa
1.
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.
Mol Genet Metab
; 135(2): 133-142, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34991944
2.
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Mol Genet Metab
; 135(4): 350-356, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279367
3.
Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.
J Inherit Metab Dis
; 45(3): 386-405, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34997761
4.
Endogenous Oxalate Production in Primary Hyperoxaluria Type 1 Patients.
J Am Soc Nephrol
; 32(12): 3175-3186, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34686543
5.
A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.
Mol Genet Metab
; 134(1-2): 175-181, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34247932
6.
Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.
Mol Genet Metab
; 134(4): 317-322, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34600820
7.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200442
8.
Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes.
J Genet Couns
; 30(2): 457-469, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32940388
9.
Subclinical effects of long-chain fatty acid ß-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
J Inherit Metab Dis
; 43(5): 969-980, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32463482
10.
The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
J Inherit Metab Dis
; 43(3): 507-517, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845337
11.
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis
; 43(4): 787-799, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31955429
12.
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
Int J Mol Sci
; 21(7)2020 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32276429
13.
Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism.
Mol Genet Metab
; 126(1): 14-22, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30563741
14.
Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.
Mol Genet Metab
; 126(2): 121-130, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30528227
15.
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.
Mol Genet Metab
; 127(1): 86-94, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30987917
16.
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clin Genet
; 96(4): 281-289, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31194252
17.
Cardiac disease in mucopolysaccharidosis type III.
J Inherit Metab Dis
; 42(2): 276-285, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30671988
18.
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis
; 42(1): 159-168, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740737
19.
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
J Inherit Metab Dis
; 42(3): 414-423, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30761551
20.
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
Ann Neurol
; 82(5): 686-696, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29023963