Found: 39
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Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Consensus clinical management guidelines for Niemann-Pick disease type C.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1352006
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- Publication type:
- Article
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Analysis of the upper airway by the acoustic reflection method in children with mucopolysaccharidosis.
- Published in:
- Pediatric Pulmonology, 2011, v. 46, n. 6, p. 587, doi. 10.1002/ppul.21409
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- Publication type:
- Article
Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1263, doi. 10.1002/acn3.50822
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- Publication type:
- Article
Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 365, doi. 10.1111/cge.14358
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- Publication type:
- Article
New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 639, doi. 10.1111/cge.13688
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- Publication type:
- Article
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 294, doi. 10.3390/diagnostics11020294
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- Publication type:
- Article
Acid sphingomyelinase deficiency in France: a retrospective survival study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03234-6
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- Publication type:
- Article
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02804-4
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- Publication type:
- Article
Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0259-0
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- Publication type:
- Article
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 391, doi. 10.1186/s13023-014-0207-4
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- Publication type:
- Article
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-80
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- Publication type:
- Article
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Natural history of GM1 gangliosidosis—Retrospective cohort study of 61 French patients from 1998 to 2019.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 972, doi. 10.1002/jimd.12646
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- Publication type:
- Article
Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1463, doi. 10.1002/jimd.12428
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- Publication type:
- Article
AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1254, doi. 10.1002/jimd.12274
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- Publication type:
- Article
Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1225, doi. 10.1007/s10545-018-0175-2
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- Publication type:
- Article
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha‐mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double‐blind, randomised, placebo‐controlled trial.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1215, doi. 10.1007/s10545-018-0185-0
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- Publication type:
- Article
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1215, doi. 10.1007/s10545-018-0185-0
- By:
- Publication type:
- Article
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1225, doi. 10.1007/s10545-018-0175-2
- By:
- Publication type:
- Article
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 58, doi. 10.1002/ajmg.a.33779
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- Publication type:
- Article
Herpes simplex encephalitis: diagnostic problems and late relapse.
- Published in:
- Developmental Medicine & Child Neurology, 2006, v. 48, n. 1, p. 60, doi. 10.1017/s0012162206000120
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- Publication type:
- Article
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 251, doi. 10.1002/humu.1182
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- Publication type:
- Article
Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2627, doi. 10.1002/ajmg.a.62884
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- Publication type:
- Article
Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1756, doi. 10.1002/ajmg.a.61273
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- Publication type:
- Article
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy.
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 2, p. 325, doi. 10.1111/epi.16761
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- Publication type:
- Article
Children often present with infantile spasms after herpetic encephalitis.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 9, p. 1571, doi. 10.1111/epi.12258
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- Publication type:
- Article
Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings.
- Published in:
- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0117418
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- Publication type:
- Article
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities-the TENALYS study, a patient perspective survey.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach.
- Published in:
- 2022
- By:
- Publication type:
- journal article
International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
- Published in:
- 2021
- By:
- Publication type:
- corrected article
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C).
- Published in:
- 2016
- By:
- Publication type:
- journal article