标题
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management
作者
关键词
-
出版物
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 21, Issue 4, Pages 1517
出版商
MDPI AG
发表日期
2020-02-24
DOI
10.3390/ijms21041517
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future
- (2019) Madeleine Taylor et al. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
- Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles
- (2019) Laura Rigon et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe
- (2019) Aleksandra Jezela-Stanek et al. JOURNAL OF APPLIED GENETICS
- Effect of enzyme replacement therapy on the growth of patients with Morquio A
- (2019) Caitlin Doherty et al. JOURNAL OF HUMAN GENETICS
- Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments
- (2019) Kazuki Sawamoto et al. DRUGS
- Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA
- (2019) Carlos J. Alméciga-Diaz et al. JOURNAL OF MEDICINAL CHEMISTRY
- Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study
- (2019) Huey Yin Leong et al. Orphanet Journal of Rare Diseases
- Pre-clinical Safety and Efficacy of Lentiviral Vector-Mediated Ex Vivo Stem Cell Gene Therapy for the Treatment of Mucopolysaccharidosis IIIA
- (2019) Stuart M. Ellison et al. Molecular Therapy-Methods & Clinical Development
- Development of Substrate Degradation Enzyme Therapy for Mucopolysaccharidosis IVA Murine Model
- (2019) Kazuki Sawamoto et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems
- (2019) J. Víctor Álvarez et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Enzyme-Loaded Gel Core Nanostructured Lipid Carriers to Improve Treatment of Lysosomal Storage Diseases: Formulation and In Vitro Cellular Studies of Elosulfase Alfa-Loaded Systems
- (2019) J. Álvarez et al. Pharmaceutics
- An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan
- (2019) Lin et al. Diagnostics
- Targeting Adeno-Associated Virus Vectors for Local Delivery to Fractures and Systemic Delivery to the Skeleton
- (2019) Lucinda R. Lee et al. Molecular Therapy-Methods & Clinical Development
- AAVrh10 Vector Corrects Disease Pathology in MPS IIIA Mice and Achieves Widespread Distribution of SGSH in Large Animal Brains
- (2019) Michaël Hocquemiller et al. Molecular Therapy-Methods & Clinical Development
- A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency
- (2018) Julie Tordo et al. BRAIN
- Growth impairment in mucopolysaccharidoses
- (2018) Melodie Melbouci et al. MOLECULAR GENETICS AND METABOLISM
- Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis
- (2018) Shaukat A. Khan et al. MOLECULAR GENETICS AND METABOLISM
- Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA
- (2018) Hira Peracha et al. MOLECULAR GENETICS AND METABOLISM
- Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II
- (2018) Hiroo Hoshina et al. MOLECULAR GENETICS AND METABOLISM
- Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA
- (2018) Hsiang-Yu Lin et al. Pediatrics and Neonatology
- Targeting Root Cause by Systemic scAAV9-hIDS Gene Delivery: Functional Correction and Reversal of Severe MPS II in Mice
- (2018) Haiyan Fu et al. Molecular Therapy-Methods & Clinical Development
- The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses
- (2018) Hsiang-Yu Lin et al. Molecular Genetics & Genomic Medicine
- Monoolein-based nanoparticles for drug delivery to the central nervous system: A platform for lysosomal storage disorder treatment
- (2018) Bruna Donida et al. EUROPEAN JOURNAL OF PHARMACEUTICS AND BIOPHARMACEUTICS
- Tailoring the AAV2 capsid vector for bone-targeting
- (2018) Carlos J. Alméciga-Díaz et al. PEDIATRIC RESEARCH
- AAV Gene Transfer with Tandem Promoter Design Prevents Anti-transgene Immunity and Provides Persistent Efficacy in Neonate Pompe Mice
- (2018) Pasqualina Colella et al. Molecular Therapy-Methods & Clinical Development
- Unraveling the Complex Story of Immune Responses to AAV Vectors Trial After Trial
- (2017) Céline Vandamme et al. HUMAN GENE THERAPY
- Factors influencing transfection efficiency of pIDUA/nanoemulsion complexes in a mucopolysaccharidosis type I murine model
- (2017) Michelle Fraga et al. International Journal of Nanomedicine
- A selective screening program for the early detection of mucopolysaccharidosis
- (2017) Cristóbal Colón et al. MEDICINE
- Epidemiology of mucopolysaccharidoses
- (2017) Shaukat A. Khan et al. MOLECULAR GENETICS AND METABOLISM
- Mucopolysaccharidosis IVA and glycosaminoglycans
- (2017) Shaukat Khan et al. MOLECULAR GENETICS AND METABOLISM
- Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa
- (2017) D. Hughes et al. Orphanet Journal of Rare Diseases
- Bio-Plex immunoassay measuring the quantity of lysosomal N -acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study
- (2017) Chih-Kuang Chuang et al. BMJ Open
- Optimized AAV rh.10 Vectors That Partially Evade Neutralizing Antibodies during Hepatic Gene Transfer
- (2017) Ruchita Selot et al. Frontiers in Pharmacology
- Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study
- (2016) Paul R. Harmatz et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Surgical Reconstruction for Severe Tracheal Obstruction in Morquio A Syndrome
- (2016) Christian Pizarro et al. ANNALS OF THORACIC SURGERY
- Nanoparticles restore lysosomal acidification defects: Implications for Parkinson and other lysosomal-related diseases
- (2016) Mathieu Bourdenx et al. Autophagy
- Allogeneic Hematopoietic Stem Cell Transplantation in Thirty-Four Pediatric Cases of Mucopolysaccharidosis—A Ten-Year Report from the China Children Transplant Group
- (2016) Jianmin Wang et al. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
- Endosome–mitochondria interactions are modulated by iron release from transferrin
- (2016) Anupam Das et al. JOURNAL OF CELL BIOLOGY
- Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry
- (2016) Francyne Kubaski et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
- (2016) Derralynn A Hughes et al. JOURNAL OF MEDICAL GENETICS
- Hematopoietic stem cell transplantation for Morquio A syndrome
- (2016) Hiromasa Yabe et al. MOLECULAR GENETICS AND METABOLISM
- Obstructive airway in Morquio A syndrome, the past, the present and the future
- (2016) Shunji Tomatsu et al. MOLECULAR GENETICS AND METABOLISM
- Activity of daily living for Morquio A syndrome
- (2016) Eriko Yasuda et al. MOLECULAR GENETICS AND METABOLISM
- α-Galactosidase-A Loaded-Nanoliposomes with Enhanced Enzymatic Activity and Intracellular Penetration
- (2016) Ingrid Cabrera et al. Advanced Healthcare Materials
- Current therapies for Morquio A syndrome and their clinical outcomes
- (2016) Kazuki Sawamoto et al. Expert Opinion on Orphan Drugs
- Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders
- (2016) Marika Salvalaio et al. PLoS One
- Immunogenicity of Elosulfase Alfa, an Enzyme Replacement Therapy in Patients With Morquio A Syndrome: Results From MOR-004, a Phase III Trial
- (2015) Becky Schweighardt et al. CLINICAL THERAPEUTICS
- Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial
- (2015) Christian J. Hendriksz et al. MOLECULAR GENETICS AND METABOLISM
- Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders
- (2015) Giancarlo Parenti et al. MOLECULAR THERAPY
- Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome
- (2015) Shunji Tomatsu et al. Drug Design Development and Therapy
- Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations
- (2015) Shunji Tomatsu et al. Expert Opinion on Orphan Drugs
- International guidelines for the management and treatment of Morquio A syndrome
- (2014) Christian J. Hendriksz et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Pharmacokinetic and Pharmacodynamic Evaluation of Elosulfase Alfa, an Enzyme Replacement Therapy in Patients with Morquio A Syndrome
- (2014) Yulan Qi et al. CLINICAL PHARMACOKINETICS
- In silico analysis of mutations occurring in the protein N-acetylgalactosamine-6-sulfatase (GALNS) and causing mucopolysaccharidosis IVA
- (2014) E.R. Tamarozzi et al. GENETICS AND MOLECULAR RESEARCH
- Morquio A Syndrome-Associated Mutations: A Review of Alterations in theGALNSGene and a New Locus-Specific Database
- (2014) Amelia Morrone et al. HUMAN MUTATION
- Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study
- (2014) Christian J. Hendriksz et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype–phenotype correlation for Morquio A
- (2014) Sergio Olarte-Avellaneda et al. MOLECULAR BIOLOGY REPORTS
- Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I
- (2014) Fabiana Quoos Mayer et al. PHARMACEUTICAL RESEARCH
- Dose Responsive Effects of Subcutaneous Pentosan Polysulfate Injection in Mucopolysaccharidosis Type VI Rats and Comparison to Oral Treatment
- (2014) Michael Frohbergh et al. PLoS One
- Orthopedic management of the extremities in patients with Morquio A syndrome
- (2014) Klane K. White et al. Journal of Childrens Orthopaedics
- Immune responses to AAV vectors: overcoming barriers to successful gene therapy
- (2013) F. Mingozzi et al. BLOOD
- Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo Syndrome type B mice
- (2013) C D Heldermon et al. GENE THERAPY
- Upper Cervical Fusion in Children with Morquio Syndrome
- (2013) Ozgur Dede et al. JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME
- Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases
- (2013) Robert E. Boyd et al. JOURNAL OF MEDICINAL CHEMISTRY
- The Lower Extremity in Morquio Syndrome
- (2013) Arjun A. Dhawale et al. JOURNAL OF PEDIATRIC ORTHOPAEDICS
- Pathogenesis of Morquio A syndrome: An autopsied case reveals systemic storage disorder
- (2013) Eriko Yasuda et al. MOLECULAR GENETICS AND METABOLISM
- Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA
- (2013) C.J. Hendriksz et al. MOLECULAR GENETICS AND METABOLISM
- Newborn screening and diagnosis of mucopolysaccharidoses
- (2013) Shunji Tomatsu et al. MOLECULAR GENETICS AND METABOLISM
- Autophagy in lysosomal storage disorders
- (2012) Andrew P. Lieberman et al. Autophagy
- Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits
- (2012) Guilherme Baldo et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Microvesicle-associated AAV Vector as a Novel Gene Delivery System
- (2012) Casey A Maguire et al. MOLECULAR THERAPY
- Anesthetic care and perioperative complications of children with Morquio syndrome
- (2012) Mary C. Theroux et al. PEDIATRIC ANESTHESIA
- Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders
- (2011) Kenneth J. Valenzano et al. ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES
- Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples
- (2011) Marli V. Camelier et al. CLINICA CHIMICA ACTA
- Mucopolysaccharidosis Type IVA (Morquio A Disease): Clinical Review and Current Treatment: A Special Review
- (2011) S. Tomatsu et al. CURRENT PHARMACEUTICAL BIOTECHNOLOGY
- Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction
- (2011) Maria Francisca Coutinho et al. MOLECULAR GENETICS AND METABOLISM
- Biomarker analysis of Morquio syndrome: identification of disease state and drug responsive markers
- (2011) Lisa Martell et al. Orphanet Journal of Rare Diseases
- Validation of an LC–MS/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio A syndrome
- (2011) Lisa Argento Martell et al. Bioanalysis
- Design and synthesis of substrates for newborn screening of Maroteaux–Lamy and Morquio A syndromes
- (2010) Trisha A. Duffey et al. BIOORGANIC & MEDICINAL CHEMISTRY LETTERS
- Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders
- (2010) Alessandro Fraldi et al. EMBO JOURNAL
- Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1
- (2010) Carlos J. Alméciga-Díaz et al. FEBS Journal
- Morquio disease: The role of cartilage canals in the pathogenesis of chondrogenic dwarfism
- (2010) Jozef Zustin MEDICAL HYPOTHESES
- Enhancement of Drug Delivery: Enzyme-replacement Therapy for Murine Morquio A Syndrome
- (2010) Shunji Tomatsu et al. MOLECULAR THERAPY
- Respiratory Manifestations in Mucopolysaccharidoses
- (2010) Marianne S. Muhlebach et al. Paediatric Respiratory Reviews
- New biotechnological and nanomedicine strategies for treatment of lysosomal storage disorders
- (2010) Silvia Muro Wiley Interdisciplinary Reviews-Nanomedicine and Nanobiotechnology
- Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients
- (2009) Ruud A. Bank et al. MOLECULAR GENETICS AND METABOLISM
- Involvement of the Toll-like receptor 4 pathway and use of TNF- antagonists for treatment of the mucopolysaccharidoses
- (2009) C. M. Simonaro et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Effect of elongation factor 1α promoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase
- (2008) Carlos J. Alméciga-Díaz et al. MOLECULAR BIOLOGY REPORTS
- Analysis of AAV Serotypes 1–9 Mediated Gene Expression and Tropism in Mice After Systemic Injection
- (2008) Carmela Zincarelli et al. MOLECULAR THERAPY
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now