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

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scientific article published in June 2016

Language	Label	Description	Also known as
English	Clinical course of sly syndrome (mucopolysaccharidosis type VII)	scientific article published in June 2016

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scholarly article

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

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1 reference

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inferred from title

object named as

Brett H Graham

4

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object named as

Mark S Sands

11

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Robert D. Steiner

object named as

Robert D Steiner

3

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Roberto Giugliani

13

object named as

Roberto Giugliani

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Gregory M Pastores

15

object named as

Gregory Pastores

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author name string

Adriana M Montaño

1

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Ngu Lock-Hock

2

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Marina Szlago

5

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Robert Greenstein

6

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Mercedes Pineda

7

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Antonio Gonzalez-Meneses

8

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Mahmut Çoker

9

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Dennis Bartholomew

10

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Raymond Wang

12

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Alfons Macaya

14

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Anastasia K Ketko

16

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Fatih Ezgü

17

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Akemi Tanaka

18

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Laila Arash

19

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Michael Beck

20

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Rena E Falk

21

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Kaustuv Bhattacharya

22

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José Franco

23

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Klane K White

24

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Grant A Mitchell

25

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Loreta Cimbalistiene

26

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Max Holtz

27

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William S Sly

28

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language of work or name

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publication date

June 2016

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Journal of Medical Genetics

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53

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6

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403-18

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Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

1 reference

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7 April 2017

Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes

1 reference

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

7 April 2017

Cloning, sequencing, and expression of cDNA for human beta-glucuronidase

1 reference

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

7 April 2017

Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency

1 reference

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

7 April 2017

Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity

1 reference

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7 April 2017

MEGA4: Molecular Evolutionary Genetics Analysis (MEGA) Software Version 4.0

1 reference

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

7 April 2017

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature

1 reference

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

7 April 2017

Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome).

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

Therapy for the mucopolysaccharidoses

1 reference

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

28 September 2017

Overview of the mucopolysaccharidoses

1 reference

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

28 September 2017

Orthopaedic aspects of mucopolysaccharidoses

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.

1 reference

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

28 September 2017

Mucopolysaccharidosis type VII (Sly syndrome) presenting as neonatal cholestasis with hepatosplenomegaly

1 reference

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

28 September 2017

Hydrops fetalis: lysosomal storage disorders in extremis

1 reference

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

28 September 2017

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

1 reference

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

28 September 2017

The frequency of lysosomal storage diseases in The Netherlands.

1 reference

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

28 September 2017

Prevalence of lysosomal storage disorders

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

Incidence of the mucopolysaccharidoses in Northern Ireland

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

Murine mucopolysaccharidosis type VII: long term therapeutic effects of enzyme replacement and enzyme replacement followed by bone marrow transplantation

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

Beta-glucuronidase deficiency in a girl with unusual clinical features

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

Cloning and characterization of the human beta-glucuronidase gene

1 reference

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

28 September 2017

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

1 reference

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

28 September 2017

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

1 reference

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

30 May 2018

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

1 reference

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

30 May 2018

Postmortem observations on beta-glucuronidase deficiency presenting as hydrops fetalis

1 reference

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

30 May 2018

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

1 reference

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

30 May 2018

Molecular analysis of mucopolysaccharidosis type VII

1 reference

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

30 May 2018

beta-Glucuronidase deficiency as a cause of fetal hydrops

1 reference

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

30 May 2018

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.

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

28 November 2018

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

1 reference

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

28 November 2018

Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency

1 reference

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

28 November 2018

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

1 reference

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

28 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sly Disease: Mucopolysaccharidosis Type VII

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variation in the phenotypic expression of beta-glucuronidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lysosomal storage diseases in non-immune hydrops fetalis pregnancies

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incidence of the mucopolysaccharidoses in Western Australia

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new case of mucopolysaccharidosis type VII with major skeletal abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atlantoaxial instability in mucopolysaccharidosis type VII

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cumulative incidence rates of the mucopolysaccharidoses in Germany

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of lysosomal storage diseases using fetal blood

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis Type VII presenting with isolated neonatal ascites

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26908836

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1136/JMEDGENET-2015-103322

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