(Q35195569)

English

Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity

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scholarly article

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Europe PubMed Central

PubMed publication ID

7 August 2017

Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity (English)

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Robert J. Desnick

3

object named as

R J Desnick

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Edward H Schuchman

4

object named as

E H Schuchman

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

author name string

W D Jin

1

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

C E Jackson

2

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Europe PubMed Central

PubMed publication ID

7 August 2017

language of work or name

0 references

publication date

1 April 1992

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Europe PubMed Central

PubMed publication ID

7 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

7 August 2017

50

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

795-800

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Synthesis and use of synthetic oligonucleotides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

28 July 2018

Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis. (Maroteaux-Lamy syndrome, mild phenotype).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

28 July 2018

Human N-acetylgalactosamine-4-sulphate sulphatase. Purification, monoclonal antibody production and native and subunit Mr values

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

28 July 2018

Diagnosis of Maroteaux-Lamy syndrome by the use of radiolabelled oligosaccharides as substrates for the determination of arylsulphatase B activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

28 July 2018

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

28 July 2018

Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

28 July 2018

Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

28 July 2018

Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

28 July 2018

Purification and some properties of soluble human liver arylsulfatases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

28 July 2018

Uridine diphospho-N-acetylgalactosamine-4-sulfate sulfohydrolase activity of human arylsulfatase B and its deficiency in the Maroteaux-Lamy syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

28 July 2018

Rapid method for measuring arylsulfatase A and B in leucocytes as a diagnosis for sulfatidosis, mucosulfatidosis and mucopolysaccharidosis VI

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

28 July 2018

A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

27 September 2018

Biosynthesis and maturation of arylsulfatase B in normal and mutant cultured human fibroblasts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

27 September 2018

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682624

27 September 2018

Human placenta arylsulphatase B purification and separation into subfractions

1 reference

https://pubmed.ncbi.nlm.nih.gov/1550123

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The sulphatase of ox liver. XI. The isoelectric focussing of a purified preparation of sulphatase B

1 reference

https://pubmed.ncbi.nlm.nih.gov/1550123

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1550123

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Improved Method for Heterozygote Identification in Feline and Human Mucopolysaccharidosis VI, Arylsulfatase-B Deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1550123

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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