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List of works by John Hopwood

A Preclinical Study Evaluating AAVrh10-Based Gene Therapy for Sanfilippo Syndrome

scientific article

A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases ⬇️

scientific article published on December 1, 1992

A defect in exodegradative pathways provides insight into endodegradation of heparan and dermatan sulfates

scientific article published on 23 December 2005

A membrane protein primarily associated with the lysosomal compartment

scientific article published on 01 July 1997

A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome

scientific article published on 27 April 2017

A simple method for early age phenotype confirmation using toe tissue from a mouse model of MPS IIIA

scientific article published on 01 April 2014

A specific fluorogenic assay for N-acetylgalactosamine-4-sulphatase activity using immunoadsorption

scientific article published on January 1991

Absence of hyaluronidase in cultured human skin fibroblasts ⬇️

scientific article published on 01 November 1975

Advantages of using same species enzyme for replacement therapy in a feline model of mucopolysaccharidosis type VI

scientific article published on 01 December 1999

Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice

scientific article published on 27 July 2010

Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells.

scientific article

An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus

scientific article published on 01 December 1992

An improved method for the purification of IgG monoclonal antibodies from culture supernatants

scientific article published on 01 October 1992

An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum

scientific article published on 24 March 2005

An overview of intra-articular therapy for mucopolysaccharidosis VI

scientific article published on 01 January 2010

Analysis of normal and mutant iduronate-2-sulphatase conformation

scientific article

Analysis of sheep α-synuclein provides a molecular strategy for the reduction of fibrillation

scientific article published on 19 December 2016

Axonal dystrophy in the brain of mice with Sanfilippo syndrome

scientific article published on 7 June 2017

Biochemical and molecular analysis of mucopolysaccharidoses in Turkey

scientific article published on 01 January 2002

Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families

scientific article

Biochemical profiling to predict disease severity in metachromatic leukodystrophy

scientific article published on 15 September 2009

Bovine mucopolysaccharidosis type IIIB.

scientific article

Butanolysis derivatization: improved sensitivity in LC-MS/MS quantitation of heparan sulfate in urine from mucopolysaccharidosis patients

scientific article published on 27 August 2015

Caprine mucopolysaccharidosis IIID: a preliminary trial of enzyme replacement therapy.

scientific article published in December 2000

Characterization of a C57BL/6 congenic mouse strain of mucopolysaccharidosis type IIIA.

scientific article published on 7 July 2006

Characterization of sulfated oligosaccharides in mucopolysaccharidosis type IIIA by electrospray ionization mass spectrometry

scientific article published in July 2006

Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase

article

Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14.

scientific article published on June 1988

Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)

scientific journal article

Cloning and sequence analysis of caprine N-acetylglucosamine 6-sulfatase cDNA ⬇️

scientific article published on June 9, 1995

Common antigenicity for two glycosidases

scientific article published on 06 December 2005

Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy

scientific journal article

Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain

scientific article published on December 2015

Correction of alpha-L-fucosidase deficiency in fucosidosis fibroblasts by retroviral vector-mediated gene transfer

scientific article published on August 1, 1992

Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase ⬇️

scientific article published on June 15, 1992

Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity

scientific article published on 01 January 2002

Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II

scientific article (publication date: September 1992)

Delivery of therapeutic protein for prevention of neurodegenerative changes: comparison of different CSF-delivery methods

scientific article

Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples.

scientific article published on 23 February 2006

Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease

scientific article published on 01 August 2001

Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders

scientific article published on 01 September 2000

Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry.

scientific article published on March 2003

Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases

scientific article published on 01 November 2004

Determination of oligosaccharides in Pompe disease by electrospray ionization tandem mass spectrometry ⬇️

scientific article published on January 1, 2002

Determination of the role of injection site on the efficacy of intra-CSF enzyme replacement therapy in MPS IIIA mice

scientific article published on 12 March 2015

Determination of urinary oligosaccharides by high-performance liquid chromatography/electrospray ionization-tandem mass spectrometry: Application to Hunter syndrome

scientific article published on 9 April 2010

Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots

scientific article published in March 2005

Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA).

scientific article published in March 2005

Diagnosis of lysosomal storage disorders: current techniques and future directions.

scientific article published in September 2004

Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker

scientific article published on 01 August 1997

Diagnosis of metachromatic leukodystrophy by immune quantification of arylsulphatase A protein and activity in dried blood spots.

scientific article published in November 2008

Diagnostic enzymology of alpha-L-iduronidase with special reference to a sulphated disaccharide derived from heparin

scientific article published on 01 February 1982

Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-ac

scientific article published in June 2005

Directed differentiation and characterization of genetically modified embryonic stem cells for therapy

scientific article published on January 2006

Disease stage determines the efficacy of treatment of a paediatric neurodegenerative disease

scientific article published in June 2014

Disease-specific markers for the mucopolysaccharidoses

scientific article published on 03 September 2004

Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA

scientific article

Drug induced exocytosis of glycogen in Pompe disease.

scientific article published on 28 September 2016

Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking α-synuclein

scientific article published on 25 April 2019

Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs--a proof of principle study.

scientific article published on 28 July 2009

Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI

scientific article published on 01 November 1997

Effect of high dose, repeated intra-cerebrospinal fluid injection of sulphamidase on neuropathology in mucopolysaccharidosis type IIIA mice.

scientific article published in October 2008

Effect of lysosomal storage on bis(monoacylglycero)phosphate.

scientific article published in April 2008

Embryonic stem cell-derived glial precursors as a vehicle for sulfamidase production in the MPS-IIIA mouse brain.

scientific article published on 26 March 2010

Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality.

scientific article published on 17 May 2011

Endo-lysosomal and autophagic dysfunction: a driving factor in Alzheimer's disease?

scientific article published on 27 December 2016

Enhanced channelling of sulphate through a rapidly exchangeable sulphate pool in response to stimulated glycosaminoglycan synthesis in pancreatic epithelial cells

scientific article published on July 1999

Enzyme replacement reduces neuropathology in MPS IIIA dogs

scientific article published on 29 April 2011

Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study

scientific article published on 23 November 2009

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

scientific article

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

scientific article

Enzyme replacement therapy for mucopolysaccharidosis VI: long‐term cardiac effects of galsulfase (Naglazyme®) therapy ⬇️

scientific article published on June 5, 2012

Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI.

scientific article published on February 1997

Enzyme replacement therapy in Mucopolysaccharidosis VI: evidence for immune responses and altered efficacy of treatment in animal models

scientific article published on August 1997

Enzyme replacement therapy in a feline model of MPS VI: modification of enzyme structure and dose frequency

scientific article published on 01 June 2000

Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome

scientific article published on April 1996

Enzyme replacement therapy in alpha-mannosidosis guinea-pigs.

scientific article published on 27 June 2006

Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

scientific article

Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice

scientific article published on 5 May 2004

Epidemiology of lysosomal storage diseases: an overview ⬇️

scientific article published on February 4, 2011

Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brain

scientific article published on 25 November 2014

Evaluation of fibroblast-mediated gene therapy in a feline model of mucopolysaccharidosis type VI.

scientific article published in February 1999

Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders

scientific article published on 01 October 1998

Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease.

scientific article

Exocytosis is impaired in mucopolysaccharidosis IIIA mouse chromaffin cells

scientific article published on 25 September 2012

Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome

scientific article published on 01 December 1999

Expression and functional characterization of human mutant sulfamidase in insect cells.

scientific article published on November 2004

Expression, purification and characterization of recombinant caprine N-acetylglucosamine-6-sulphatase ⬇️

scientific article published on October 1, 1997

Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease

scientific article published on 01 November 1996

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

scientific article

Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

scientific article published on July 2010

Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes

scientific article published on 27 August 2007

Gaucher disease in sheep

scientific article published on October 27, 2010

Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe

scientific article published on 01 January 1992

Genetic manipulation of murine embryonic stem cells with enhanced green fluorescence protein and sulfatase-modifying factor I genes.

scientific article published on May 2010

Genetic mapping of new RFLPs at Xq27–q28

scientific article published on 01 January 1991

Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes

scientific article published on 01 April 1992

Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.

scientific article published on September 1998

Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher disease

scientific article published on 26 December 2007

Glycosaminoglycan Synthesis by Wilms' Tumor

scientific article published on January 1, 1978

Glycosaminoglycan degradation fragments in mucopolysaccharidosis I.

scientific article

Glycosaminoglycan synthesis by cultured human skin fibroblasts after transformation with simian virus 40 ⬇️

scientific article published on July 25, 1977

Glycosidase active site mutations in human alpha-L-iduronidase.

scientific article published on September 2001

Glycosphingolipid analysis in a naturally occurring ovine model of acute neuronopathic Gaucher disease.

scientific article published on 11 March 2016

Helper-dependent canine adenovirus vector-mediated transgene expression in a neurodegenerative lysosomal storage disorder

scientific article published on 22 September 2011

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects

scientific article (publication date: 15 April 2000)

Heparinase activity in rat liver ⬇️

scientific article published on April 11, 1977

Histomorphometric analysis of the tibial growth plate in a feline model of mucopolysaccharidosis type VI

scientific article published on 01 July 1999

Human N-acetylgalactosamine-4-sulphatase biosynthesis and maturation in normal, Maroteaux-Lamy and multiple-sulphatase-deficient fibroblasts.

scientific article published on June 1990

Human acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase. Kinetic characterization and mechanistic interpretation.

scientific article

Human alpha-L-fucosidase: complete coding sequence from cDNA clones

scientific article

Human alpha-L-iduronidase. 1. Purification, monoclonal antibody production, native and subunit molecular mass

scientific article published in October 1985

Human alpha-L-iduronidase. 2. Catalytic properties.

scientific article published in October 1985

Human alpha-L-iduronidase: cDNA isolation and expression

scientific journal article

Human and sheep growth-plate cartilage type X collagen synthesis and the influence of tissue storage ⬇️

scientific article published on July 15, 1991

Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase

scientific journal article

Human liver N-acetylgalactosamine 6-sulphatase. Purification and characterization

scientific article

Human liver N-acetylglucosamine-6-sulphate sulphatase. Catalytic properties

scientific article

Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties

scientific article

Human liver sulphamate sulphohydrolase. Determinations of native protein and subunit Mr values and influence of substrate agylcone structure on catalytic properties

scientific article

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

scientific article

Hurler syndrome: A patient with abnormally high levels of α-l-iduronidase protein ⬇️

scientific article published on June 1, 1992

Hyaluronic acid synthesis in a cell-free system from rat fibrosarcoma

scientific article published on 01 November 1974

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients

scientific article published in January 2003

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

scientific article published on January 1, 1997

Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands

scientific article

Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs

scientific article published in February 2002

Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes

scientific journal article

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)

scientific article published on 01 November 1993

Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients

scientific article published on 01 January 2004

Immune response to enzyme replacement therapy: clinical signs of hypersensitivity reactions and altered enzyme distribution in a high titre rat model.

scientific article

Immune response to enzyme replacement therapy: single epitope control of antigen distribution from circulation

scientific article published on 01 September 2002

Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I ⬇️

scientific article published on May 10, 2003

Immunochemical analysis of CD107a (LAMP-1)

scientific article published on 01 July 2005

Immunochemistry of lysosomal storage disorders.

scientific article published on 13 July 2006

Immunolocation analysis of glycosaminoglycans in the human growth plate

article

Immunopurification and characterization of human alpha-L-iduronidase with the use of monoclonal antibodies

scientific article

Immunoquantification of alpha-galactosidase: evaluation for the diagnosis of Fabry disease

scientific article published on 13 September 2004

Immunoquantification of beta-glucosidase: diagnosis and prediction of severity in Gaucher disease

scientific article published on 22 September 2005

Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase

scientific article published on 01 January 1990

Impact of high-dose, chemically modified sulfamidase on pathology in a murine model of MPS IIIA.

scientific article

In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIA.

scientific article published on February 2004

In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer ⬇️

scientific article published on May 1, 1997

Induction of tolerance to a recombinant human enzyme, acid alpha-glucosidase, in enzyme deficient knockout mice

scientific article published on April 1, 2003

Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice.

scientific article published on 12 December 2006

Intra-articular enzyme administration for joint disease in feline mucopolysaccharidosis VI: enzyme dose and interval

scientific article published on 01 April 2006

Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA.

scientific article

Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats ⬇️

scientific article published on January 1, 2012

Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase

scientific article

Isolation of lipid glucuronic acid and N-acetylglucosamine derivatives from a rat fibrosarcoma

scientific article published on 01 March 1977

Laronidase treatment of mucopolysaccharidosis I.

scientific article

Lessons learnt from animal models: pathophysiology of neuropathic lysosomal storage disorders.

scientific article published on 07 May 2010

Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.

scientific article published in January 1992

Lipid composition of microdomains is altered in a cell model of Gaucher disease

scientific article published on 21 April 2008

Lipid composition of microdomains is altered in neuronopathic Gaucher disease sheep brain and spleen

scientific article published on 17 May 2017

Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer

scientific article

Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype

scientific article published on 01 January 1993

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

scientific article published on 23 May 2008

Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow.

scientific article published on March 1996

Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI

scientific article published on 01 June 2007

Low-dose, continual enzyme delivery ameliorates some aspects of established brain disease in a mouse model of a childhood-onset neurodegenerative disorder

scientific article published on 25 November 2015

Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder mucopolysaccharidosis type IIIA.

scientific article published on 13 January 2016

Lysosomal Dysregulation in the Murine AppNL-G-F/NL-G-F Model of Alzheimer's Disease

scientific article published on 07 January 2020

Lysosomal N-acetyltransferase interacts with ALIX and is detected in extracellular vesicles

scientific article published on 04 July 2018

Lysosomal sulfate efflux following glycosaminoglycan degradation: measurements in enzyme-supplemented Maroteaux-Lamy syndrome fibroblasts and isolated lysosomes

scientific article published on 01 October 1993

Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene

scientific article

Mass spectrometric quantification of glycogen to assess primary substrate accumulation in the Pompe mouse ⬇️

scientific article published on December 20, 2011

Minimum substrate requirements of endoglycosidase activities toward dermatan sulfate by electrospray ionization-tandem mass spectrometry.

scientific article published on 29 September 2008

Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene

scientific article published on 01 September 1993

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene

scientific article published on 01 June 1992

Molecular defects in Sanfilippo syndrome type A

scientific article (publication date: May 1997)

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications ⬇️

scientific article (publication date: October 2001)

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B

scientific article

Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele

scientific article published on 01 March 1992

Mucopolysaccharidosis type II (Hunter syndrome): characterization of the iduronate-2-sulphatase in MPS II skin fibroblasts

scientific article published on 01 January 1994

Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient

scientific article published on 01 November 2000

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network.

scientific article

Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene.

scientific article

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype

scientific article

Mutational analysis of 105 mucopolysaccharidosis type VI patients

scientific article published in September 2007

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy

scientific article published on 11 December 2006

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.

scientific article published on March 2004

Mutations among Italian mucopolysaccharidosis type I patients

scientific article published on 01 November 1997

N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples.

scientific article published in September 2006

Neonatal Bone Marrow Transplantation in MPS IIIA Mice

scientific article published on 10 August 2012

Neonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI cats.

scientific article

Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA.

scientific article published in February 2018

Newborn screening for lysosomal storage disorders

scientific article published on 04 April 2006

Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy

scientific article published on 01 October 2004

Novel mutations in Sanfilippo A syndrome: implications for enzyme function ⬇️

scientific article published on September 1, 1997

Open field locomotor activity and anxiety-related behaviors in mucopolysaccharidosis type IIIA mice

scientific article published on 25 March 2008

Organ-specific over-sulfation of glycosaminoglycans and altered extracellular matrix in a mouse model of cystic fibrosis

scientific article published on 01 October 1997

PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene

scientific article (publication date: November 1992)

PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease ⬇️

scientific article published on November 25, 1991

Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study.

scientific article published in March 2005

Pilot neonatal screening program for lysosomal storage disorders, using lamp-1

Plasma lipids are altered in Gaucher disease: biochemical markers to evaluate therapeutic intervention

scientific article published on 28 November 2007

Prediction of neuropathology in mucopolysaccharidosis I patients.

scientific article published on January 2005

Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation

scientific article published on 01 September 1994

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

scientific article

Prevalence of mucopolysaccharidosis type VI mutations in Siamese cats

scientific article published on 01 July 2003

Primary culture of neural cells isolated from the cerebellum of newborn and adult mucopolysaccharidosis type IIIA mice

scientific article published on 23 February 2008

Profiling oligosaccharidurias by electrospray tandem mass spectrometry: quantifying reducing oligosaccharides.

scientific article published in October 2005

Radiolabelled disaccharides for the assay of beta-D-glucuronidase activity and the detection of mucopolysaccharidosis type VII

scientific article published on 01 August 1982

Receptor mediated binding of two glycosylation forms of N-acetylgalactosamine-4-sulphatase ⬇️

scientific article published on April 28, 1998

Recombinant caprine 3H-[N-acetylglucosamine-6-sulfatase] and human 3H-[N-acetylgalactosamine-4-sulfatase]: plasma clearance, tissue distribution, and cellular uptake in the rat.

scientific article published in December 1998

Recombinant human sulphamidase: expression, amplification, purification and characterization ⬇️

scientific article published on January 1, 1998

Reduction in open field activity in the absence of memory deficits in the AppNL-G-F knock-in mouse model of Alzheimer's disease

scientific article published on 5 September 2017

Repeated intrathecal injections of recombinant human 4-sulphatase remove dural storage in mature mucopolysaccharidosis VI cats primed with a short-course tolerisation regimen

scientific article published on 13 October 2009

Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapy.

scientific article published in March 2003

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

scientific article

SGSH gene transfer in mucopolysaccharidosis type IIIA mice using canine adenovirus vectors

scientific article published on 14 February 2010

Sanfilippo D syndrome: Correction of glucosamine-6-sulphatase deficiency following fibroblast culture in chang's media ⬇️

scientific article published on September 1, 1991

Sanfilippo D syndrome: estimation of N-acetylglucosamine-6-sulfatase activity with a radiolabeled monosulfated disaccharide substrate

scientific article (publication date: February 1989)

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B

scientific article (publication date: February 2002)

Sanfilippo syndrome type D in two adolescent sisters

scientific article

Saposins A, B, C, and D in plasma of patients with lysosomal storage disorders

scientific article published on 01 February 2000

Screening patients referred to a metabolic clinic for lysosomal storage disorders.

scientific article published on 17 March 2011

Secondary sphingolipid accumulation in a macrophage model of Gaucher disease.

scientific article published on 18 September 2007

Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder.

scientific article published on October 2003

Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA.

scientific article published on 10 November 2016

Stabilising normal and mis-sense variant alpha-glucosidase

scientific article published on 10 July 2006

Stop-codon read-through for patients affected by a lysosomal storage disorder.

scientific article published on 23 June 2006

Structure and sequence of the human alpha-L-iduronidase gene

scientific article published on August 1, 1992

Structure and sequence of the human sulphamidase gene

scientific article

Sulfate transport in normal and cystic fibrosis fibroblasts ⬇️

scientific article published on June 1, 1992

Synthesis and mass spectrometric analysis of disaccharides from methanolysis of heparan sulfate

scientific article published on 01 November 2018

Synthetic Disaccharide Standards Enable Quantitative Analysis of Stored Heparan Sulfate in MPS IIIA Murine Brain Regions

scientific article published on 18 July 2019

The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation.

scientific article published in October 2003

The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome)

scientific article

The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis

scientific article

The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome

article

The implantation of cartilaginous and periosteal tissue into growth plate defects

scientific article published on 01 January 1994

Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

scientific article published on 01 April 2005

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A

scientific journal article

Treatment of canine fucosidosis by intracisternal enzyme infusion

scientific article published on 06 May 2011

Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes ⬇️

scientific article published on January 1, 1998

Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein

scientific article

Two-dimensional mapping and microsequencing of lysosomal proteins from human placenta

scientific article published on 01 November 1998

Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes

scientific article published on 03 February 2005

Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopolysaccharidosis type IIIA.

scientific article

Variables influencing fluorimetric N-sulfoglucosamine sulfohydrolase (SGSH) activity measurement in brain homogenates

scientific article published on 22 October 2015

Variations in the chondroitin sulfate-protein linkage region of aggrecans from bovine nasal and human articular cartilages

scientific article published on 01 November 1996

alpha-L-Iduronidase deficiency in mucopolysaccharidosis type I against a radiolabelled sulfated disaccharide substrate derived from dermatan sulfate

scientific article published on 01 November 1984

alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.

scientific article published in April 2004

alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis

scientific article published in March 2002

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