Detalhe da pesquisa
1.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet
; 2022 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790351
2.
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.
Mol Genet Metab
; 133(1): 94-99, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33678523
3.
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
J Paediatr Child Health
; 57(4): 519-525, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33377563
4.
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Mol Genet Metab
; 131(4): 405-417, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257258
5.
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Mol Genet Metab
; 129(4): 292-302, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32033912
6.
High glucose level as a modifier factor in CMT1A patients.
J Peripher Nerv Syst
; 25(2): 132-137, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32347995
7.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
N Engl J Med
; 375(6): 545-55, 2016 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27509102
8.
Natural History of Vanishing White Matter.
Ann Neurol
; 84(2): 274-288, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014503
9.
Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.
J Inherit Metab Dis
; 42(5): 993-997, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30945312
10.
New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 24(2): 207-212, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31119804
11.
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
Am J Hum Genet
; 96(5): 765-74, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25913037
12.
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Brain
; 140(11): 2820-2837, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053833
13.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
J Med Genet
; 54(4): 288-296, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27834756
14.
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C).
BMC Pediatr
; 16: 107, 2016 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27449637
15.
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.
PLoS Biol
; 10(3): e1001288, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22448145
16.
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
J Inherit Metab Dis
; 38(5): 905-14, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25868664
17.
Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.
J Med Genet
; 51(9): 605-13, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25062845
18.
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
BMC Med Genet
; 15: 96, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25174816
19.
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Hum Mutat
; 34(10): 1357-60, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23857908
20.
What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease.
Clin Nephrol
; 79(4): 330-4, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23537685