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Design of Potent Mannose 6-Phosphate Analogues for the Functionalization of Lysosomal Enzymes To Improve the Treatment of Pompe Disease.
- Published in:
- Angewandte Chemie, 2016, v. 128, n. 47, p. 14994, doi. 10.1002/ange.201607824
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- Publication type:
- Article
Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of α-glucosidase in Pompe disease.
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- Journal of Gene Medicine, 2009, v. 11, n. 4, p. 279, doi. 10.1002/jgm.1305
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- Publication type:
- Article
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
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- Movement Disorders, 2005, v. 20, n. 10, p. 1366, doi. 10.1002/mds.20593
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- Publication type:
- Article
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.
- Published in:
- 2018
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- Publication type:
- journal article
Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase α and β.
- Published in:
- Journal of Neurochemistry, 2006, v. 96, n. 6, p. 1572, doi. 10.1111/j.1471-4159.2006.03665.x
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- Publication type:
- Article
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 4, p. 684, doi. 10.1093/hmg/ddp535
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- Publication type:
- Article
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.
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- Human Molecular Genetics, 2008, v. 17, n. 24, p. 3876, doi. 10.1093/hmg/ddn290
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- Publication type:
- Article
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
- Published in:
- Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 303, doi. 10.1093/brain/awz377
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- Publication type:
- Article
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
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- 2019
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- Publication type:
- journal article
Natural History of Adult Patients with GM2 Gangliosidosis.
- Published in:
- 2020
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- Publication type:
- journal article
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 2, p. 441, doi. 10.3390/ijms18020441
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- Publication type:
- Article
Chaperone Therapy for GM2 Gangliosidosis: Effects of Pyrimethamine on β-Hexosaminidase Activity in Sandhoff Fibroblasts.
- Published in:
- Molecular Neurobiology, 2014, v. 50, n. 1, p. 159, doi. 10.1007/s12035-013-8605-5
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- Publication type:
- Article
Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 9, p. 511, doi. 10.1038/sj.ejhg.5200845
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- Publication type:
- Article
Design of Potent Mannose 6-Phosphate Analogues for the Functionalization of Lysosomal Enzymes To Improve the Treatment of Pompe Disease.
- Published in:
- Angewandte Chemie International Edition, 2016, v. 55, n. 47, p. 14774, doi. 10.1002/anie.201607824
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- Publication type:
- Article
Correction of glycogenosis type 2 by muscle-specific lentiviral vector.
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- In Vitro Cellular & Developmental Biology Animal, 2008, v. 44, n. 10, p. 397, doi. 10.1007/s11626-008-9138-5
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- Publication type:
- Article
Fabry disease and treatment with agalsidase alpha: unsuspected cardiac arrhythmia in two heterozygous women.
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- European Journal of Clinical Pharmacology, 2008, v. 64, n. 6, p. 635, doi. 10.1007/s00228-007-0460-8
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- Publication type:
- Article
910. Gene Therapy of Glycogenosis Type 2Using SIN-Lentiviral Vectors.
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- Molecular Therapy, 2006, v. 13, p. S350, doi. 10.1016/j.ymthe.2006.08.1000
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- Publication type:
- Article
233. Towards Reversing Sandhoff Pathology by Lentiviral-Mediated Gene Therapy
- Published in:
- 2005
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- Publication type:
- Abstract
Neuronal ceroïd‐lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 2, p. 157, doi. 10.1111/cge.14145
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- Publication type:
- Article
Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease.
- Published in:
- British Journal of Haematology, 2010, v. 150, n. 1, p. 93, doi. 10.1111/j.1365-2141.2010.08214.x
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- Publication type:
- Article
First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01071-5
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- Publication type:
- Article
New insights into therapeutic options for Pompe disease.
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- IUBMB Life, 2011, v. 63, n. 11, p. spcone, doi. 10.1002/iub.593
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- Publication type:
- Article
New insights into therapeutic options for Pompe disease.
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- IUBMB Life, 2011, v. 63, n. 11, p. 979, doi. 10.1002/iub.529
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- Publication type:
- Article
Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease.
- Published in:
- EMBO Molecular Medicine, 2013, v. 5, n. 6, p. 870, doi. 10.1002/emmm.201202057
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- Publication type:
- Article
A Prospective Study of Bone Marrow Hematopoietic and Mesenchymal Stem Cells in Type 1 Gaucher Disease Patients.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069293
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- Publication type:
- Article
Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
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- Birth Defects Research, 2021, v. 113, n. 18, p. 1324, doi. 10.1002/bdr2.1950
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- Publication type:
- Article
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.
- Published in:
- Scientific Reports, 2016, p. 36182, doi. 10.1038/srep36182
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- Publication type:
- Article
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
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- PLoS ONE, 2020, v. 15, n. 5, p. 1, doi. 10.1371/journal.pone.0233460
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- Publication type:
- Article
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0244-7
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- Publication type:
- Article
Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-95
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- Publication type:
- Article
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.
- Published in:
- 2012
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- Publication type:
- journal article
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 77, doi. 10.1186/1750-1172-7-77
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- Publication type:
- Article
Natural history of GM1 gangliosidosis—Retrospective cohort study of 61 French patients from 1998 to 2019.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 972, doi. 10.1002/jimd.12646
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- Publication type:
- Article
Late‐onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 937, doi. 10.1007/s10545-018-0243-7
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- Publication type:
- Article
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 937, doi. 10.1007/s10545-018-0243-7
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- Publication type:
- Article
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
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- 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
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. 1214, doi. 10.1002/humu.21031
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- Publication type:
- Article
Identification of a novel de novo mutation (G373D) in the α-galactosidase A gene ( GLA) in a patient affected with Fabry disease.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 353, doi. 10.1002/humu.41
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- Publication type:
- Article
Metachromatic leukodystrophy: Identification of the first deletion in exon 1 and nine novel point mutations in the arylsulfatase A gene.
- Published in:
- Human Mutation, 1997, v. 9, n. 3, p. 234, doi. 10.1002/(SICI)1098-1004(1997)9:3<234::AID-HUMU4>3.0.CO;2-7
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- Publication type:
- Article
Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1.
- Published in:
- 2019
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- Publication type:
- journal article
Adenoviral Vector as a Gene Delivery System into Cultured Rat Neuronal and Glial Cells.
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- European Journal of Neuroscience, 1993, v. 5, n. 10, p. 1287, doi. 10.1111/j.1460-9568.1993.tb00914.x
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- Publication type:
- Article
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The pulvinar sign: frequency and clinical correlations in Fabry disease.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 5, p. 738, doi. 10.1007/s00415-008-0786-x
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- Publication type:
- Article
A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2343, doi. 10.3390/jcm9082343
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- Publication type:
- Article
Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 6, p. 954, doi. 10.1093/hmg/ddy012
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- Publication type:
- Article
Sleep‐disordered breathing in children with mucolipidosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1196, doi. 10.1002/ajmg.a.61167
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- Publication type:
- Article
Mannose 6‐phosphonate labelling: A key for processing the therapeutic enzyme in Pompe disease.
- Published in:
- Journal of Cellular & Molecular Medicine, 2019, v. 23, n. 9, p. 6499, doi. 10.1111/jcmm.14516
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- Publication type:
- Article
Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2017, v. 31, n. 11, p. 951, doi. 10.1002/rcm.7860
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- Publication type:
- Article
Prevention of neuropathology in the mouse model of hurler syndrome.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 1, p. 68
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- Publication type:
- Article
Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy—Oldest case of a presymptomatic enzyme therapy.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 9, p. 1, doi. 10.1111/ene.16324
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- Publication type:
- Article