(Q41483103)

English

Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

scientific article published on March 1994

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 October 2017

Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 October 2017

mucopolysaccharidosis VI

1 reference

based on heuristic

inferred from title

author name string

E Voskoboeva

1

1 reference

Europe PubMed Central

PubMed publication ID

1 October 2017

D Isbrandt

2

1 reference

Europe PubMed Central

PubMed publication ID

1 October 2017

K von Figura

3

1 reference

Europe PubMed Central

PubMed publication ID

1 October 2017

X Krasnopolskaya

4

1 reference

Europe PubMed Central

PubMed publication ID

1 October 2017

C Peters

5

1 reference

Europe PubMed Central

PubMed publication ID

1 October 2017

publication date

1 March 1994

1 reference

Europe PubMed Central

PubMed publication ID

1 October 2017

1 reference

Europe PubMed Central

PubMed publication ID

1 October 2017

93

1 reference

Europe PubMed Central

PubMed publication ID

1 October 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

1 October 2017

259-264

1 reference

Europe PubMed Central

PubMed publication ID

1 October 2017

Structure of the human arylsulfatase B gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8125475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/8125475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/8125475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8125475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/8125475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/8125475

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/8125475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8125475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8125475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8125475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases

1 reference

https://pubmed.ncbi.nlm.nih.gov/8125475

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00212019

1 reference

Europe PubMed Central

PubMed publication ID

1 October 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 October 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q41483103&oldid=2204570395"