(Q48479430)

English

Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient

scientific article published on 21 August 2009

In more languages

default for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

Ida Vanessa D Schwartz

7

object named as

Ida Vanessa Doederlein Schwartz

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

Maira Graeff Burin

3

object named as

Maira Burin

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

author name string

Osvaldo Alfonso Artigalás

1

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

Luiz Roberto da Silva

2

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

Gregory M Pastores

4

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

Bai Zeng

5

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

Nívea Macedo

6

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

publication date

21 August 2009

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

Metabolic Brain Disease

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

24

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

3

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

493-500

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/19697114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/19697114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19697114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of the human Calpha-formylglycine-generating enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/19697114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Saudi variant of multiple sulfatase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19697114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19697114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The sulfatase gene family

1 reference

https://pubmed.ncbi.nlm.nih.gov/19697114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of lysosomal storage disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/19697114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19697114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pitfalls in the diagnosis of multiple sulfatase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19697114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/19697114

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S11011-009-9151-8

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/19697114

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=Q48479430&oldid=2209508542"