Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome)

Brain and visceral gene editing of mucopolysaccharidosis I mice by nasal delivery of the CRISPR/Cas9 system

(2022) Luisa Natalia Pimentel Vera et al.   JOURNAL OF GENE MEDICINE

The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy

(2022) Anna-Maria Wiesinger et al.   Frontiers in Pharmacology

Improved engraftment and therapeutic efficacy by human genome-edited hematopoietic stem cells with Busulfan-based myeloablation

(2022) Edina Poletto et al.   Molecular Therapy-Methods & Clinical Development

In Situ Gene Therapy

(2021) Hallana Souza Santos et al.   CURRENT GENE THERAPY

Mucopolysaccharidosis VII in Brazil: natural history and clinical findings

(2021) Roberto Giugliani et al.   Orphanet Journal of Rare Diseases

Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data

(2021) Roberto Giugliani et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

(2021) Sarah Verheyen et al.   JOURNAL OF MEDICAL GENETICS

Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

(2021) Antonio Gónzalez-Meneses et al.   Orphanet Journal of Rare Diseases

Estimated birth prevalence of mucopolysaccharidoses in Brazil

(2020) Andressa Federhen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genome Editing for Mucopolysaccharidoses

(2020) Edina Poletto et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII

(2020) Raymond Y. Wang et al.   MOLECULAR GENETICS AND METABOLISM

Vestronidase alfa: Recombinant human β-glucuronidase as an enzyme replacement therapy for MPS VII

(2020) Jaclyn Cadaoas et al.   MOLECULAR GENETICS AND METABOLISM

Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study

(2020) Huda B. Al‐Kouatly et al.   PRENATAL DIAGNOSIS

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

(2020) Rossella Parini et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Diagnosis of Mucopolysaccharidoses

(2020) Francyne Kubaski et al.   Diagnostics

Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient

(2020) Josef Marek et al.   CARDIOVASCULAR PATHOLOGY

Vestronidase Alfa: A Review in Mucopolysaccharidosis VII

(2019) Emma H. McCafferty et al.   BIODRUGS

Association between mucopolysaccharidosis Type VII and hydrops fetalis

(2019) Max Holtz et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Intrathecal AAVrh10 corrects Biochemical and Histological Hallmarks of Mucopolysaccharidosis VII Mice and Improves Behavior and Survival

(2019) G Pagès et al.   HUMAN MOLECULAR GENETICS

Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future

(2019) Hui Hsuan Chen et al.   JOURNAL OF HUMAN GENETICS

First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation

(2019) Patricia Dubot et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII – a European caregiver survey

(2019) Alexandra Morrison et al.   Orphanet Journal of Rare Diseases

Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice

(2019) Roselena Silvestri Schuh et al.   GENE THERAPY

Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses

(2018) Jennifer T. Saville et al.   GENETICS IN MEDICINE

In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system

(2018) Roselena Silvestri Schuh et al.   JOURNAL OF CONTROLLED RELEASE

Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report

(2018) Luisa Sisinni et al.   PEDIATRIC TRANSPLANTATION

Pharmacokinetic and Pharmacodynamic Modeling to Optimize the Dose of Vestronidase Alfa, an Enzyme Replacement Therapy for Treatment of Patients with Mucopolysaccharidosis Type VII: Results from Three Trials

(2018) Yulan Qi et al.   CLINICAL PHARMACOKINETICS

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

(2017) Matthias Zielonka et al.   GENETICS IN MEDICINE

Epidemiology of mucopolysaccharidoses

(2017) Shaukat A. Khan et al.   MOLECULAR GENETICS AND METABOLISM

A novel, randomized, placebo-controlled, blind-start, single-crossover phase 3 study to assess the efficacy and safety of UX003 (rhGUS) enzyme replacement therapy in patients with MPS VII

(2017) Paul Harmatz et al.   MOLECULAR GENETICS AND METABOLISM

Glycosaminoglycans detection methods: Applications of mass spectrometry

(2017) Francyne Kubaski et al.   MOLECULAR GENETICS AND METABOLISM

Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII

(2017) Francyne Kubaski et al.   PRENATAL DIAGNOSIS

Antenatal manifestations of inborn errors of metabolism: biological diagnosis

(2016) Christine Vianey-Saban et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

(2016) Adriana M Montaño et al.   JOURNAL OF MEDICAL GENETICS

Reversal of established bone pathology in MPS VII mice following lentiviral-mediated gene therapy

(2016) Ainslie L.K. Derrick-Roberts et al.   MOLECULAR GENETICS AND METABOLISM

Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII

(2016) Brittney L Gurda et al.   MOLECULAR THERAPY

First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient

(2015) Joyce E. Fox et al.   MOLECULAR GENETICS AND METABOLISM

The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice

(2015) Elizabeth M. Xing et al.   MOLECULAR GENETICS AND METABOLISM

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders

(2015) Jyotsna Verma et al.   PRENATAL DIAGNOSIS

Quantitative analysis of glycosaminoglycans, chondroitin/dermatan sulfate, hyaluronic acid, heparan sulfate, and keratan sulfate by liquid chromatography–electrospray ionization–tandem mass spectrometry

(2014) Harumi Osago et al.   ANALYTICAL BIOCHEMISTRY

Lentiviral-Mediated Gene Therapy Results in Sustained Expression of β-Glucuronidase for up to 12 Months in the Gusmps/mps and up to 18 Months in the Gustm(L175F)Sly Mouse Models of Mucopolysaccharidosis Type VII

(2014) Ainslie L.K. Derrick-Roberts et al.   HUMAN GENE THERAPY

The effect of neonatal gene therapy on skeletal manifestations in mucopolysaccharidosis VII dogs after a decade

(2013) Elizabeth M. Xing et al.   MOLECULAR GENETICS AND METABOLISM

Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs

(2013) Paul W. Bigg et al.   MOLECULAR GENETICS AND METABOLISM

The effect of neonatal gene therapy with a gamma retroviral vector on cardiac valve disease in mucopolysaccharidosis VII dogs after a decade

(2013) Paul W. Bigg et al.   MOLECULAR GENETICS AND METABOLISM

Corrective GUSB Transfer to the Canine Mucopolysaccharidosis VII Brain

(2013) Aurelie Cubizolle et al.   MOLECULAR THERAPY

Effect of neonatal gene therapy on lumbar spine disease in mucopolysaccharidosis VII dogs

(2012) Lachlan J. Smith et al.   MOLECULAR GENETICS AND METABOLISM

Skeletal response to lentiviral mediated gene therapy in a mouse model of MPS VII

(2012) Carmen E. Macsai et al.   MOLECULAR GENETICS AND METABOLISM

Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis

(2012) Laura Gort et al.   PRENATAL DIAGNOSIS

Pathogenesis of aortic dilatation in mucopolysaccharidosis VII mice may involve complement activation

(2011) Guilherme Baldo et al.   MOLECULAR GENETICS AND METABOLISM

Comparison of ventricular and intravenous lentiviral-mediated gene therapy for murine MPS VII

(2010) Julie Bielicki et al.   MOLECULAR GENETICS AND METABOLISM

Widespread biochemical correction of murine mucopolysaccharidosis type VII pathology by liver hydrodynamic plasmid delivery

(2009) M Richard et al.   GENE THERAPY

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)

(2009) Shunji Tomatsu et al.   HUMAN MUTATION

Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy

(2008) Ramin Sedaghat Herati et al.   MOLECULAR GENETICS AND METABOLISM

Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice

(2008) Adriana M. Montaño et al.   MOLECULAR GENETICS AND METABOLISM