Disease on EC 3.10.1.1 - N-sulfoglucosamine sulfohydrolase
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Alzheimer Disease
Is SGSH heterozygosity a risk factor for early-onset neurodegenerative disease?
arylsulfatase (type i) deficiency
Genetic complementation studies of multiple sulfatase deficiency.
arylsulfatase (type i) deficiency
Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies.
beta-glucuronidase deficiency
Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones.
Deficiency Diseases
Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?
Genetic Diseases, Inborn
High and prolonged sulfamidase secretion by the liver of MPS-IIIA mice following hydrodynamic tail vein delivery of antibiotic-free pFAR4 plasmid vector.
Infections
Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain.
Intellectual Disability
Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA.
Leukemia
Correction of Sanfilippo A skin fibroblasts by retroviral vector-mediated gene transfer.
Lysosomal Storage Diseases
A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).
Lysosomal Storage Diseases
An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.
Lysosomal Storage Diseases
An Improved Adeno-Associated Virus Vector for Neurological Correction of the Mouse Model of Mucopolysaccharidosis IIIA.
Lysosomal Storage Diseases
Broad Functional Correction of Molecular Impairments by Systemic Delivery of scAAVrh74-hSGSH Gene Delivery in MPS IIIA Mice.
Lysosomal Storage Diseases
Liver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice.
Lysosomal Storage Diseases
Overcoming Limitations Inherent in Sulfamidase to Improve Mucopolysaccharidosis IIIA Gene Therapy.
Lysosomal Storage Diseases
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
Lysosomal Storage Diseases
Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.
Memory Disorders
Overcoming Limitations Inherent in Sulfamidase to Improve Mucopolysaccharidosis IIIA Gene Therapy.
Mucopolysaccharidoses
A boy with mucopolysaccharidosis type II accompanied with a novel variation in heparan-N-sulfatase.
Mucopolysaccharidoses
A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.
Mucopolysaccharidoses
A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).
Mucopolysaccharidoses
A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome.
Mucopolysaccharidoses
A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family.
Mucopolysaccharidoses
A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA.
Mucopolysaccharidoses
A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA.
Mucopolysaccharidoses
A Preclinical Study Evaluating AAVrh10-Based Gene Therapy for Sanfilippo Syndrome.
Mucopolysaccharidoses
AAVrh10 Vector Corrects Disease Pathology in MPS IIIA Mice and Achieves Widespread Distribution of SGSH in Large Animal Brains.
Mucopolysaccharidoses
Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice.
Mucopolysaccharidoses
An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.
Mucopolysaccharidoses
An Improved Adeno-Associated Virus Vector for Neurological Correction of the Mouse Model of Mucopolysaccharidosis IIIA.
Mucopolysaccharidoses
Broad Functional Correction of Molecular Impairments by Systemic Delivery of scAAVrh74-hSGSH Gene Delivery in MPS IIIA Mice.
Mucopolysaccharidoses
Correction of mucopolysaccharidosis type IIIA somatic and central nervous system pathology by lentiviral-mediated gene transfer.
Mucopolysaccharidoses
Correction of pathological accumulation of glycosaminoglycans in CNS and peripheral tissues of MPSIIIA mice through systemic AAV9 gene transfer.
Mucopolysaccharidoses
Correction of Sanfilippo A skin fibroblasts by retroviral vector-mediated gene transfer.
Mucopolysaccharidoses
Diagnosis of Sanfilippo type A syndrome by estimation of sulfamidase activity using a radiolabelled tetrasaccharide substrate.
Mucopolysaccharidoses
Directed differentiation and characterization of genetically modified embryonic stem cells for therapy.
Mucopolysaccharidoses
Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA.
Mucopolysaccharidoses
Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs-A proof of principle study.
Mucopolysaccharidoses
Enhancing the Therapeutic Potential of Sulfamidase for the Treatment of Mucopolysaccharidosis IIIA.
Mucopolysaccharidoses
Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease.
Mucopolysaccharidoses
Exocytosis is impaired in mucopolysaccharidosis IIIA mouse chromaffin cells.
Mucopolysaccharidoses
Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome.
Mucopolysaccharidoses
Expression and functional characterization of human mutant sulfamidase in insect cells.
Mucopolysaccharidoses
Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test.
Mucopolysaccharidoses
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.
Mucopolysaccharidoses
Gastrointestinal pathology in a mouse model of mucopolysaccharidosis type IIIA.
Mucopolysaccharidoses
Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping.
Mucopolysaccharidoses
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.
Mucopolysaccharidoses
Genetic manipulation of murine embryonic stem cells with enhanced green fluorescence protein and sulfatase-modifying factor I genes.
Mucopolysaccharidoses
Glycosaminoglycan levels and structure in a mucopolysaccharidosis IIIA mice and the effect of a highly secreted sulfamidase engineered to cross the blood-brain barrier.
Mucopolysaccharidoses
Guanidinylated Neomycin Conjugation Enhances Intranasal Enzyme Replacement in the Brain.
Mucopolysaccharidoses
Helper-dependent canine adenovirus vector-mediated transgene expression in a neurodegenerative lysosomal storage disorder.
Mucopolysaccharidoses
Hematopoietic Stem Cell and Gene Therapy Corrects Primary Neuropathology and Behavior in Mucopolysaccharidosis IIIA Mice.
Mucopolysaccharidoses
Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group.
Mucopolysaccharidoses
Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.
Mucopolysaccharidoses
High and prolonged sulfamidase secretion by the liver of MPS-IIIA mice following hydrodynamic tail vein delivery of antibiotic-free pFAR4 plasmid vector.
Mucopolysaccharidoses
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
Mucopolysaccharidoses
Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs.
Mucopolysaccharidoses
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
Mucopolysaccharidoses
Impact of high-dose, chemically modified sulfamidase on pathology in a murine model of MPS IIIA.
Mucopolysaccharidoses
Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA.
Mucopolysaccharidoses
Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice.
Mucopolysaccharidoses
Insulin receptor antibody-sulfamidase fusion protein penetrates the primate blood-brain barrier and reduces glycosoaminoglycans in Sanfilippo type A cells.
Mucopolysaccharidoses
Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA.
Mucopolysaccharidoses
Intracisternal Enzyme Replacement Therapy in Lysosomal Storage Diseases: Routes of Absorption into Brain.
Mucopolysaccharidoses
Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice.
Mucopolysaccharidoses
Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.
Mucopolysaccharidoses
Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA.
Mucopolysaccharidoses
Liver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice.
Mucopolysaccharidoses
Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder MPS IIIA.
Mucopolysaccharidoses
Mannose 6-phosphate receptor-mediated transport of sulfamidase across the blood-brain barrier in the newborn mouse.
Mucopolysaccharidoses
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
Mucopolysaccharidoses
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
Mucopolysaccharidoses
Myeloid/Microglial Driven Autologous Hematopoietic Stem Cell Gene Therapy Corrects a Neuronopathic Lysosomal Disease.
Mucopolysaccharidoses
N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mucopolysaccharidosis IIIA mice.
Mucopolysaccharidoses
Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA.
Mucopolysaccharidoses
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
Mucopolysaccharidoses
Overcoming Limitations Inherent in Sulfamidase to Improve Mucopolysaccharidosis IIIA Gene Therapy.
Mucopolysaccharidoses
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
Mucopolysaccharidoses
Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients.
Mucopolysaccharidoses
Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamidase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse.
Mucopolysaccharidoses
SGSH gene transfer in mucopolysaccharidosis type IIIA mice using canine adenovirus vectors.
Mucopolysaccharidoses
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Mucopolysaccharidoses
Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).
Mucopolysaccharidoses
Sulphamidase activity in leucocytes, cultured skin fibroblasts and amniotic cells: diagnosis of the Sanfilippo A syndrome with the use of radiolabelled disaccharide substrate.
Mucopolysaccharidoses
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
Mucopolysaccharidoses
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
Mucopolysaccharidoses
Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.
Mucopolysaccharidoses
Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopolysaccharidosis type IIIA.
Mucopolysaccharidoses
Variables influencing fluorimetric N-sulfoglucosamine sulfohydrolase (SGSH) activity measurement in brain homogenates.
Mucopolysaccharidoses
Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy.
Mucopolysaccharidosis I
Mucopolysaccharide diseases: A complex interplay between neuroinflammation, microglial activation and adaptive immunity.
Mucopolysaccharidosis II
A boy with mucopolysaccharidosis type II accompanied with a novel variation in heparan-N-sulfatase.
Mucopolysaccharidosis III
A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.
Mucopolysaccharidosis III
A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).
Mucopolysaccharidosis III
A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome.
Mucopolysaccharidosis III
A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant.
Mucopolysaccharidosis III
A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA.
Mucopolysaccharidosis III
A Preclinical Study Evaluating AAVrh10-Based Gene Therapy for Sanfilippo Syndrome.
Mucopolysaccharidosis III
A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.
Mucopolysaccharidosis III
AAVrh10 Vector Corrects Disease Pathology in MPS IIIA Mice and Achieves Widespread Distribution of SGSH in Large Animal Brains.
Mucopolysaccharidosis III
Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice.
Mucopolysaccharidosis III
An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.
Mucopolysaccharidosis III
Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII.
Mucopolysaccharidosis III
Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA.
Mucopolysaccharidosis III
Broad Functional Correction of Molecular Impairments by Systemic Delivery of scAAVrh74-hSGSH Gene Delivery in MPS IIIA Mice.
Mucopolysaccharidosis III
Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds.
Mucopolysaccharidosis III
Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.
Mucopolysaccharidosis III
Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain.
Mucopolysaccharidosis III
Correction of mucopolysaccharidosis type IIIA somatic and central nervous system pathology by lentiviral-mediated gene transfer.
Mucopolysaccharidosis III
Correction of pathological accumulation of glycosaminoglycans in CNS and peripheral tissues of MPSIIIA mice through systemic AAV9 gene transfer.
Mucopolysaccharidosis III
Delivery of therapeutic protein for prevention of neurodegenerative changes: comparison of different CSF-delivery methods.
Mucopolysaccharidosis III
Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry.
Mucopolysaccharidosis III
Determination of the role of injection site on the efficacy of intra-CSF enzyme replacement therapy in MPS IIIA mice.
Mucopolysaccharidosis III
Directed differentiation and characterization of genetically modified embryonic stem cells for therapy.
Mucopolysaccharidosis III
Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA.
Mucopolysaccharidosis III
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.
Mucopolysaccharidosis III
Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking ?-synuclein.
Mucopolysaccharidosis III
Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs-A proof of principle study.
Mucopolysaccharidosis III
Effect of high dose, repeated intra-CSF injection of sulphamidase on neuropathology in MPS IIIA mice.
Mucopolysaccharidosis III
Embryonic stem cell-derived glial precursors as a vehicle for sulfamidase production in the MPS-IIIA mouse brain.
Mucopolysaccharidosis III
Enhancing the Therapeutic Potential of Sulfamidase for the Treatment of Mucopolysaccharidosis IIIA.
Mucopolysaccharidosis III
Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice.
Mucopolysaccharidosis III
Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brain.
Mucopolysaccharidosis III
Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease.
Mucopolysaccharidosis III
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.
Mucopolysaccharidosis III
Functional correction of neurological and somatic disorders at later stages of disease in MPS IIIA mice by systemic scAAV9-hSGSH gene delivery.
Mucopolysaccharidosis III
Gastrointestinal pathology in a mouse model of mucopolysaccharidosis type IIIA.
Mucopolysaccharidosis III
Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping.
Mucopolysaccharidosis III
Genetic manipulation of murine embryonic stem cells with enhanced green fluorescence protein and sulfatase-modifying factor I genes.
Mucopolysaccharidosis III
Glycosaminoglycan levels and structure in a mucopolysaccharidosis IIIA mice and the effect of a highly secreted sulfamidase engineered to cross the blood-brain barrier.
Mucopolysaccharidosis III
Helper-dependent canine adenovirus vector-mediated transgene expression in a neurodegenerative lysosomal storage disorder.
Mucopolysaccharidosis III
Hematopoietic Stem Cell and Gene Therapy Corrects Primary Neuropathology and Behavior in Mucopolysaccharidosis IIIA Mice.
Mucopolysaccharidosis III
Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group.
Mucopolysaccharidosis III
Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.
Mucopolysaccharidosis III
High and prolonged sulfamidase secretion by the liver of MPS-IIIA mice following hydrodynamic tail vein delivery of antibiotic-free pFAR4 plasmid vector.
Mucopolysaccharidosis III
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
Mucopolysaccharidosis III
Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.
Mucopolysaccharidosis III
Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs.
Mucopolysaccharidosis III
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
Mucopolysaccharidosis III
Impact of chemical modification of sulfamidase on distribution to brain interstitial fluid and to CSF after an intravenous administration in awake, freely-moving rats.
Mucopolysaccharidosis III
Impact of high-dose, chemically modified sulfamidase on pathology in a murine model of MPS IIIA.
Mucopolysaccharidosis III
Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA.
Mucopolysaccharidosis III
In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIA.
Mucopolysaccharidosis III
Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice.
Mucopolysaccharidosis III
Insulin receptor antibody-sulfamidase fusion protein penetrates the primate blood-brain barrier and reduces glycosoaminoglycans in Sanfilippo type A cells.
Mucopolysaccharidosis III
Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA.
Mucopolysaccharidosis III
Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.
Mucopolysaccharidosis III
Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice.
Mucopolysaccharidosis III
Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.
Mucopolysaccharidosis III
Lentiviral-mediated gene correction of mucopolysaccharidosis type IIIA.
Mucopolysaccharidosis III
Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA.
Mucopolysaccharidosis III
Liver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice.
Mucopolysaccharidosis III
Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder MPS IIIA.
Mucopolysaccharidosis III
Mannose 6-phosphate receptor-mediated transport of sulfamidase across the blood-brain barrier in the newborn mouse.
Mucopolysaccharidosis III
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.
Mucopolysaccharidosis III
Mucopolysaccharide diseases: A complex interplay between neuroinflammation, microglial activation and adaptive immunity.
Mucopolysaccharidosis III
Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes.
Mucopolysaccharidosis III
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
Mucopolysaccharidosis III
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
Mucopolysaccharidosis III
Myeloid/Microglial Driven Autologous Hematopoietic Stem Cell Gene Therapy Corrects a Neuronopathic Lysosomal Disease.
Mucopolysaccharidosis III
Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA Mice.
Mucopolysaccharidosis III
Neuroinflammatory and oxidative stress phenomena in MPS IIIA mouse model: The positive effect of long-term aspirin treatment.
Mucopolysaccharidosis III
Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA.
Mucopolysaccharidosis III
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
Mucopolysaccharidosis III
Overcoming Limitations Inherent in Sulfamidase to Improve Mucopolysaccharidosis IIIA Gene Therapy.
Mucopolysaccharidosis III
Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?
Mucopolysaccharidosis III
Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients.
Mucopolysaccharidosis III
Prenatal diagnosis of Sanfilippo syndrome type A by early amniocentesis.
Mucopolysaccharidosis III
Purification and characterization of recombinant murine sulfamidase.
Mucopolysaccharidosis III
Recombinant human sulphamidase: expression, amplification, purification and characterization.
Mucopolysaccharidosis III
Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamidase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse.
Mucopolysaccharidosis III
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
Mucopolysaccharidosis III
Robust LC-MS/MS methods for analysis of heparan sulfate levels in CSF and brain for application in studies of MPS IIIA.
Mucopolysaccharidosis III
Sanfilippo A syndrome: sulfamidase deficiency in cultured skin fibroblasts and liver.
Mucopolysaccharidosis III
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
Mucopolysaccharidosis III
Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report.
Mucopolysaccharidosis III
SGSH gene transfer in mucopolysaccharidosis type IIIA mice using canine adenovirus vectors.
Mucopolysaccharidosis III
Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA.
Mucopolysaccharidosis III
Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones.
Mucopolysaccharidosis III
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Mucopolysaccharidosis III
Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).
Mucopolysaccharidosis III
Systemic scAAV9.U1a.hSGSH Delivery Corrects Brain Biochemistry in Mucopolysaccharidosis Type IIIA at Early and Later Stages of Disease.
Mucopolysaccharidosis III
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
Mucopolysaccharidosis III
Trans-generational exposure to low levels of rhodamine B does not adversely affect litter size or liver function in murine mucopolysaccharidosis type IIIA.
Mucopolysaccharidosis III
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
Mucopolysaccharidosis III
Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopolysaccharidosis type IIIA.
Mucopolysaccharidosis III
Variables influencing fluorimetric N-sulfoglucosamine sulfohydrolase (SGSH) activity measurement in brain homogenates.
Mucopolysaccharidosis III
Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy.
Mucopolysaccharidosis III
[Clinical and neuroradiological evaluation of the long-term surviving siblings of Sanfilippo syndrome A type]
Mucopolysaccharidosis VII
Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones.
Multiple Sulfatase Deficiency Disease
Genetic complementation studies of multiple sulfatase deficiency.
Multiple Sulfatase Deficiency Disease
Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?
Multiple Sulfatase Deficiency Disease
Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies.
n-sulfoglucosamine sulfohydrolase deficiency
Complementation studies in human and caprine beta-mannosidosis.
n-sulfoglucosamine sulfohydrolase deficiency
Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice.
n-sulfoglucosamine sulfohydrolase deficiency
Neuroinflammatory and oxidative stress phenomena in MPS IIIA mouse model: The positive effect of long-term aspirin treatment.
n-sulfoglucosamine sulfohydrolase deficiency
Sanfilippo A syndrome: sulfamidase deficiency in cultured skin fibroblasts and liver.
n-sulfoglucosamine sulfohydrolase deficiency
Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones.
n-sulfoglucosamine sulfohydrolase deficiency
Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).
n-sulfoglucosamine sulfohydrolase deficiency
Sulphamidase activity in leucocytes, cultured skin fibroblasts and amniotic cells: diagnosis of the Sanfilippo A syndrome with the use of radiolabelled disaccharide substrate.
n-sulfoglucosamine sulfohydrolase deficiency
Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopolysaccharidosis type IIIA.
Neurodegenerative Diseases
Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking ?-synuclein.
Neurodegenerative Diseases
Hematopoietic Stem Cell and Gene Therapy Corrects Primary Neuropathology and Behavior in Mucopolysaccharidosis IIIA Mice.
Neurodegenerative Diseases
N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mucopolysaccharidosis IIIA mice.
Neurodegenerative Diseases
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
Neurodegenerative Diseases
Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamidase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse.
Neurodegenerative Diseases
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Neuroinflammatory Diseases
An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.
Neuroinflammatory Diseases
Correction of pathological accumulation of glycosaminoglycans in CNS and peripheral tissues of MPSIIIA mice through systemic AAV9 gene transfer.
Neuronal Ceroid-Lipofuscinoses
Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology.
Osteoporosis
Field Test Results of Sex- and Gender-Specific Health Multimedia Case-Based Learning Modules.
Pulmonary Disease, Chronic Obstructive
Expression, activity and localization of lysosomal sulfatases in Chronic Obstructive Pulmonary Disease.
Retinitis Pigmentosa
Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.
Stroke
Development of a PubMed Based Search Tool for Identifying Sex and Gender Specific Health Literature.
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