Detalhe da pesquisa
1.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Cytotherapy
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613540
2.
A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.
J Pediatr
; 254: 75-82.e4, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36265573
3.
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
4.
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.
Mol Genet Metab
; 132(1): 38-43, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33309011
5.
Progressive Leukodystrophy-Like Demyelinating Syndromes with MOG-Antibodies in Children: A Rare Under-Recognized Phenotype.
Neuropediatrics
; 52(4): 337-340, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33792000
6.
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
N Engl J Med
; 377(17): 1630-1638, 2017 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28976817
7.
Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial.
Mol Genet Metab
; 131(1-2): 235-244, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32792226
8.
Fatigue, depression, and quality of life in children with multiple sclerosis: a comparative study with other demyelinating diseases.
Dev Med Child Neurol
; 62(2): 241-244, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30977123
9.
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
10.
Dose-response evaluation of intravenous gene therapy in a symptomatic mouse model of metachromatic leukodystrophy.
Mol Ther Methods Clin Dev
; 32(2): 101248, 2024 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38680552
11.
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
Orphanet J Rare Dis
; 19(1): 46, 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38326898
12.
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Eur J Paediatr Neurol
; 49: 141-154, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38554683
13.
Gene therapy for neurodegenerative disorders in children: dreams and realities.
Arch Pediatr
; 30(8S1): 8S32-8S40, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-38043981
14.
[Inborn error of metabolism and allogenic hematopoietic cell transplantation: Guidelines from the SFGM-TC]. / Maladie héréditaire du métabolisme et allogreffe de cellules souches hématopoïétiques : indication, modalité et suivi. Recommandations de la SFGM-TC.
Bull Cancer
; 110(2S): S1-S12, 2023 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-36244825
15.
Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based study.
Orphanet J Rare Dis
; 18(1): 238, 2023 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37563635
16.
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Orphanet J Rare Dis
; 18(1): 204, 2023 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37480097
17.
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Neurology
; 100(23): e2360-e2373, 2023 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076312
18.
Efficient intracerebral delivery of AAV5 vector encoding human ARSA in non-human primate.
Hum Mol Genet
; 19(1): 147-58, 2010 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19837699
19.
An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy.
Orphanet J Rare Dis
; 17(1): 329, 2022 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36056437
20.
Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy.
Orphanet J Rare Dis
; 17(1): 370, 2022 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36195888