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1.
Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry.
Cardiol Young;
34(2): 401-411, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37850463
2.
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry.
Mol Genet Metab;
138(2): 106967, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36709533
3.
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.
J Pediatr;
254: 39-47.e4, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36265570
4.
Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges.
J Inherit Metab Dis;
46(5): 848-873, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37530674
5.
Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study.
J Inherit Metab Dis;
46(4): 705-719, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36849760
6.
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.
Mol Genet Metab;
137(1-2): 127-139, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36027721
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36087504
8.
Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II.
Mol Genet Metab;
137(1-2): 92-103, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35961250
9.
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.
J Pediatr;
242: 192-200.e3, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34788681
10.
Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry.
Am J Med Genet A;
188(10): 2941-2951, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35869927
11.
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil.
J Inherit Metab Dis;
45(2): 340-352, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34910312
12.
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency.
Genet Med;
23(8): 1543-1550, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33875845
13.
Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months.
Mol Genet Metab;
132(4): 227-233, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33610471
14.
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.
J Pediatr;
220: 184-192.e6, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32145964
15.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Am J Hum Genet;
98(2): 310-21, 2016 Feb 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-26833332
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31194252
17.
Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.
Am J Med Genet A;
179(12): 2425-2432, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31639289
18.
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.
Eur J Pediatr;
178(4): 593-603, 2019 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-30740618
19.
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.
Genet Med;
20(11): 1423-1429, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29517765
20.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29716835