Detalhe da pesquisa
1.
Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report.
Pediatr Transplant
; 22(7): e13278, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30091163
2.
Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages.
Mol Genet Metab
; 120(3): 180-189, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27993458
3.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
J Med Genet
; 53(6): 403-18, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908836
4.
Expanding the clinical phenotypes of MT-ATP6 mutations.
Hum Mol Genet
; 23(23): 6191-200, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24986921
5.
Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.
Genet Med
; 18(4): 378-85, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26181491
6.
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
7.
Epilepsy in Rett syndrome--lessons from the Rett networked database.
Epilepsia
; 56(4): 569-76, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25789914
8.
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
Am J Med Genet A
; 164A(3): 627-33, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375884
9.
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.
J Inherit Metab Dis
; 37(1): 93-101, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23793527
10.
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.
BMC Pediatr
; 14: 284, 2014 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25381171
11.
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Eur J Hum Genet
; 32(4): 426-434, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38316953
12.
Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.
Hum Mutat
; 33(7): 1031-6, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22415763
13.
Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia.
Cerebellum
; 10(1): 1-8, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20865357
14.
Genistein supplementation in patients affected by Sanfilippo disease.
J Inherit Metab Dis
; 34(5): 1039-44, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21556833
15.
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry.
Orphanet J Rare Dis
; 15(1): 104, 2020 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32334605
16.
Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review.
Orphanet J Rare Dis
; 14(1): 32, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30732631
17.
Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review.
Orphanet J Rare Dis
; 14(1): 161, 2019 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31266511
18.
Analysis of the Phenotypes in the Rett Networked Database.
Int J Genomics
; 2019: 6956934, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31049350
19.
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
J Clin Med
; 8(1)2019 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30634555
20.
A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).
Hum Mutat
; 29(8): E112-22, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18484665