Detalhe da pesquisa
1.
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Mol Genet Metab
; 139(3): 107612, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37245378
2.
Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis.
Mol Genet Metab
; 136(3): 164-176, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216884
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.
Biomarkers for drug development in propionic and methylmalonic acidemias.
J Inherit Metab Dis
; 45(2): 132-143, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35038174
5.
Vestronidase alfa: Recombinant human ß-glucuronidase as an enzyme replacement therapy for MPS VII.
Mol Genet Metab
; 130(1): 65-76, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32192868
6.
The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII.
Mol Genet Metab
; 129(3): 219-227, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32063397
7.
Clinical manifestations and management of fatty acid oxidation disorders.
Rev Endocr Metab Disord
; 21(4): 479-493, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32654032
8.
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
J Med Genet
; 52(5): 312-6, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25670821
9.
Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227].
Mol Genet Metab
; 131(1-2): 285, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32843286
10.
Adenylosuccinate lyase deficiency.
J Inherit Metab Dis
; 38(2): 231-42, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25112391
11.
Cervical spine MRI findings in patients with Mucopolysaccharidosis type II.
Pediatr Neurosurg
; 50(1): 26-30, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25721852
12.
Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.
Neuropediatrics
; 45(1): 50-5, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23504561
13.
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
Pediatr Int
; 56(4): 520-5, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24373060
14.
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.
Am J Med Genet A
; 161A(6): 1291-9, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633437
15.
Growth patterns in patients with mucopolysaccharidosis VII.
Mol Genet Metab Rep
; 36: 100987, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37415957
16.
Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration.
Front Neurol
; 14: 1098454, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36970548
17.
Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey.
Orphanet J Rare Dis
; 18(1): 257, 2023 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37653408
18.
Effect of rapid cessation of enzyme replacement therapy: a report of 5 cases and a review of the literature.
Mol Genet Metab
; 107(3): 508-12, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22926198
19.
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.
Mol Genet Metab
; 105(2): 237-43, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22133300
20.
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Am J Med Genet A
; 158A(2): 450-4, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22246721