标题
Treatment of lysosomal storage disorders: successes and challenges
作者
关键词
Hematopoietic Stem Cell Transplantation, Enzyme Replacement Therapy, Fabry Disease, Gauche Disease, Central Nervous System Disease
出版物
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 37, Issue 4, Pages 587-598
出版商
Springer Nature
发表日期
2014-05-12
DOI
10.1007/s10545-014-9718-3
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Eliglustat tartrate
- (2014) J.A. Shayman DRUGS OF THE FUTURE
- Histologic Findings of Femoral Heads From Patients With Gaucher Disease Treated With Enzyme Replacement
- (2013) Ehud Lebel et al. AMERICAN JOURNAL OF CLINICAL PATHOLOGY
- Miglustat therapy in type 1 Gaucher disease: Clinical and safety outcomes in a multicenter retrospective cohort study
- (2013) David J. Kuter et al. BLOOD CELLS MOLECULES AND DISEASES
- Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature
- (2013) Maarten Arends et al. BRITISH JOURNAL OF HAEMATOLOGY
- Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management
- (2013) Guirish A. Solanki et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications
- (2013) F. Weidemann et al. JOURNAL OF INTERNAL MEDICINE
- A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
- (2013) L van der Tol et al. JOURNAL OF MEDICAL GENETICS
- Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases
- (2013) Robert E. Boyd et al. JOURNAL OF MEDICINAL CHEMISTRY
- B cell lymphoma and myeloma in murine Gaucher's disease
- (2013) EV Pavlova et al. JOURNAL OF PATHOLOGY
- Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry
- (2013) C. Ronald Scott et al. JOURNAL OF PEDIATRICS
- Treatment of Niemann–Pick Type C Disease by Histone Deacetylase Inhibitors
- (2013) Paul Helquist et al. Neurotherapeutics
- Fibrosis: a key feature of Fabry disease with potential therapeutic implications
- (2013) Frank Weidemann et al. Orphanet Journal of Rare Diseases
- An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
- (2013) Sandra DK Kingma et al. Orphanet Journal of Rare Diseases
- Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure
- (2013) Eveline J Langereis et al. Orphanet Journal of Rare Diseases
- Allogeneic Hematopoietic Stem Cell Transplantation for Treatment of Gaucher Disease
- (2013) Maciej Machaczka PEDIATRIC HEMATOLOGY AND ONCOLOGY
- Gauchers Disease—A Reappraisal of Hematopoietic Stem Cell Transplantation
- (2013) Sawa Ito et al. PEDIATRIC HEMATOLOGY AND ONCOLOGY
- Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb3) in Fabry Transgenic Mice and in the Plasma of Fabry Patients
- (2013) Brandy Young-Gqamana et al. PLoS One
- Pentosan Polysulfate: A Novel Therapy for the Mucopolysaccharidoses
- (2013) Edward H. Schuchman et al. PLoS One
- Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT
- (2013) Suhrad G. Banugaria et al. PLoS One
- Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones
- (2013) C. Yang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy
- (2013) A. Biffi et al. SCIENCE
- Autophagy in lysosomal storage disorders
- (2012) Andrew P. Lieberman et al. Autophagy
- Haematological manifestations and complications of Gaucher disease
- (2012) Derralynn A. Hughes et al. CURRENT OPINION IN HEMATOLOGY
- The emerging phenotype of long-term survivors with infantile Pompe disease
- (2012) Sean N. Prater et al. GENETICS IN MEDICINE
- Anaesthesia and airway management in mucopolysaccharidosis
- (2012) Robert Walker et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Enzyme Replacement is Associated with Better Cognitive Outcomes after Transplant in Hurler Syndrome
- (2012) Julie B. Eisengart et al. JOURNAL OF PEDIATRICS
- Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease
- (2012) C. Tondel et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update
- (2012) Marc C. Patterson et al. MOLECULAR GENETICS AND METABOLISM
- Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann–Pick C mice
- (2012) Jennifer B. Nietupski et al. MOLECULAR GENETICS AND METABOLISM
- Physiotherapy management in late-onset Pompe disease: Clinical practice in 88 patients
- (2012) Marein M. Favejee et al. MOLECULAR GENETICS AND METABOLISM
- Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy
- (2012) B. J. Ebbink et al. NEUROLOGY
- Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
- (2012) Bénédicte Héron et al. Orphanet Journal of Rare Diseases
- Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
- (2012) Nadine AME van der Beek et al. Orphanet Journal of Rare Diseases
- Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome
- (2012) Saskia M. Rombach et al. PLoS One
- Genistein in Sanfilippo disease: A randomized controlled crossover trial
- (2011) Jessica de Ruijter et al. ANNALS OF NEUROLOGY
- How I treat Gaucher disease
- (2011) A. Zimran BLOOD
- The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
- (2011) Suhrad G. Banugaria et al. GENETICS IN MEDICINE
- Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease
- (2011) Caterina Porto et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Enhanced delivery of α-glucosidase for Pompe disease by ICAM-1-targeted nanocarriers: comparative performance of a strategy for three distinct lysosomal storage disorders
- (2011) Janet Hsu et al. Nanomedicine-Nanotechnology Biology and Medicine
- Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders
- (2011) Carla EM Hollak et al. Orphanet Journal of Rare Diseases
- Enzyme Replacement Therapy and/or Hematopoietic Stem Cell Transplantation at diagnosis in patients with Mucopolysaccharidosis type I: results of a European consensus procedure
- (2011) Minke H de Ru et al. Orphanet Journal of Rare Diseases
- Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts
- (2011) N. H. Pipalia et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model
- (2010) I. Visigalli et al. BLOOD
- Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study
- (2010) Jooske M.F. Boomsma et al. BLOOD CELLS MOLECULES AND DISEASES
- Hsp70 stabilizes lysosomes and reverts Niemann–Pick disease-associated lysosomal pathology
- (2010) Thomas Kirkegaard et al. NATURE
- A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease
- (2010) Ans T. van der Ploeg et al. NEW ENGLAND JOURNAL OF MEDICINE
- Fabry disease
- (2010) Dominique P Germain Orphanet Journal of Rare Diseases
- Current International Perspectives on Hematopoietic Stem Cell Transplantation for Inherited Metabolic Disorders
- (2010) Jaap J. Boelens et al. PEDIATRIC CLINICS OF NORTH AMERICA
- Ultrastructural Analysis of Dermal Fibroblasts in Mucopolysaccharidosis Type I: Effects of Enzyme Replacement Therapy and Hematopoietic Cell Transplantation
- (2010) Josanne Cox-Brinkman et al. ULTRASTRUCTURAL PATHOLOGY
- Use of a Modified α-N-Acetylgalactosaminidase in the Development of Enzyme Replacement Therapy for Fabry Disease
- (2009) Youichi Tajima et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Musculoskeletal manifestations of lysosomal storage disorders
- (2009) M Aldenhoven et al. ANNALS OF THE RHEUMATIC DISEASES
- Risk Factor Analysis of Outcomes after Unrelated Cord Blood Transplantation in Patients with Hurler Syndrome
- (2009) Jaap Jan Boelens et al. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
- Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment
- (2009) Barbara E Shapiro et al. GENETICS IN MEDICINE
- Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process
- (2009) H. Hůlková et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Management of neuronopathic Gaucher disease: Revised recommendations
- (2009) A. Vellodi et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study
- (2009) M. Pineda et al. MOLECULAR GENETICS AND METABOLISM
- Vasculopathy in patients with Fabry disease: Current controversies and research directions
- (2009) S.M. Rombach et al. MOLECULAR GENETICS AND METABOLISM
- The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts
- (2009) Caterina Porto et al. MOLECULAR THERAPY
- The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease
- (2009) Richie Khanna et al. MOLECULAR THERAPY
- Multidisciplinary Management of Hunter Syndrome
- (2009) J. Muenzer et al. PEDIATRICS
- Fabry disease
- (2009) Raphael Schiffmann PHARMACOLOGY & THERAPEUTICS
- Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression
- (2009) Cristin D. Davidson et al. PLoS One
- Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse
- (2009) B. Liu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Randomized, controlled trial of miglustat in Gaucher's disease type 3
- (2008) Raphael Schiffmann et al. ANNALS OF NEUROLOGY
- The Clinical Outcome of Hurler Syndrome after Stem Cell Transplantation
- (2008) Mieke Aldenhoven et al. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
- Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes
- (2008) V. K. Prasad et al. BLOOD
- Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy
- (2008) M. de Fost et al. HAEMATOLOGICA
- Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1
- (2008) Salima Hacein-Bey-Abina et al. JOURNAL OF CLINICAL INVESTIGATION
- Mucopolysaccharidosis I: Management and Treatment Guidelines
- (2008) J. Muenzer et al. PEDIATRICS
- Elevated globotriaosylsphingosine is a hallmark of Fabry disease
- (2008) J. M. Aerts et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mechanism of Glycosaminoglycan-Mediated Bone and Joint Disease
- (2007) Calogera M. Simonaro et al. AMERICAN JOURNAL OF PATHOLOGY
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