Clinical course of sly syndrome (mucopolysaccharidosis type VII) (Q24658556)

object named as

Gregory Pastores

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author name string

Adriana M Montaño

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Ngu Lock-Hock

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Marina Szlago

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Robert Greenstein

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Mercedes Pineda

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Antonio Gonzalez-Meneses

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Mahmut Çoker

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Dennis Bartholomew

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Raymond Wang

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Alfons Macaya

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Anastasia K Ketko

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Fatih Ezgü

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Akemi Tanaka

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Laila Arash

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Michael Beck

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Rena E Falk

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Kaustuv Bhattacharya

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José Franco

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Klane K White

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Grant A Mitchell

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Loreta Cimbalistiene

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Max Holtz

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William S Sly

Journal of Medical Genetics

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language of work or name

English

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publication date

June 2016

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published in

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volume

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issue

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page(s)

403-18

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cites work

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Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII.

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Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model

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Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).

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Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII.

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Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma

28 September 2017

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Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.

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Prevalence of lysosomal storage disorders

28 September 2017

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Enzyme replacement therapy for murine mucopolysaccharidosis type VII leads to improvements in behavior and auditory function

28 September 2017

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Incidence of the mucopolysaccharidoses in Northern Ireland

28 September 2017

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Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications

28 September 2017

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28 September 2017

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beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients

28 September 2017

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Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis

28 September 2017

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Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy

28 September 2017

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Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

28 September 2017

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Analysis of the 5' flanking region of the human beta-glucuronidase gene

28 September 2017

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Beta-glucuronidase deficiency in a girl with unusual clinical features

28 September 2017

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Mucopolysaccharidesis Type VII resulting from beta-glucuronidase deficiency. Report of one family

28 September 2017

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Unusually mild course of beta-glucuronidase deficiency in two brothers (mucopolysaccharidosis VII)

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893087

Cloning and characterization of the human beta-glucuronidase gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893087

Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893087

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893087

Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893087

Postmortem observations on beta-glucuronidase deficiency presenting as hydrops fetalis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893087

Degeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893087

Molecular analysis of mucopolysaccharidosis type VII

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893087

beta-Glucuronidase deficiency as a cause of fetal hydrops

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893087

Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13.

30 May 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103322

Complete heart block during anesthetic management in a patient with mucopolysaccharidosis type VII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103322

Adeno-associated virus type 5 reduces learning deficits and restores glutamate receptor subunit levels in MPS VII mice CNS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103322

Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103322

Treatment of murine mucopolysaccharidosis type VII by syngeneic bone marrow transplantation in neonates

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893087

Mucopolysaccharidosis VII: postmortem biochemical and pathological findings in a young adult with beta-glucuronidase deficiency.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893087

Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893087

Increased life span and correction of metabolic defects in murine mucopolysaccharidosis type VII after syngeneic bone marrow transplantation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893087

Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation

28 November 2018

1 reference

12 December 2020

Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia

1 reference

12 December 2020

Four novel mutations in Mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the β-glucuronidase gene that creates a novel 5'-splice site

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12 December 2020

Intrauterine growth acceleration in the case of a severe form of mucopolysaccharidosis type VII

1 reference

12 December 2020

Sly Disease: Mucopolysaccharidosis Type VII

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12 December 2020

Variation in the phenotypic expression of beta-glucuronidase deficiency

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12 December 2020

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote

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12 December 2020

Lysosomal storage diseases in non-immune hydrops fetalis pregnancies

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12 December 2020

Incidence of the mucopolysaccharidoses in Western Australia

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12 December 2020

Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis

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12 December 2020

A new case of mucopolysaccharidosis type VII with major skeletal abnormalities

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12 December 2020

Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature

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12 December 2020

Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy

1 reference

12 December 2020

Quantitation and biosynthesis of beta-glucuronidase cross-reactive material in fibroblasts from patients with mucopolysaccharidosis VII

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12 December 2020

Atlantoaxial instability in mucopolysaccharidosis type VII

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12 December 2020

Cumulative incidence rates of the mucopolysaccharidoses in Germany

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12 December 2020

beta-Glucuronidase deficiency: identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid

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12 December 2020

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004

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12 December 2020

Prenatal diagnosis of lysosomal storage diseases using fetal blood

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12 December 2020

β-Glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis

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12 December 2020

Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling

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12 December 2020

Mucopolysaccharidosis Type VII presenting with isolated neonatal ascites

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12 December 2020

Chondroitin-6-sulfate mucopolysaccharidosis in conjuntion withlymphopenia, defective cellular immunity and the nephrotic syndrome

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12 December 2020

Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII

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12 December 2020

Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings

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[Mucopolysaccharidosis type VII. Clinical, radiological and biochemical studies in a neonatal case (author's transl)]

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12 December 2020