Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement-Reference-Cited by-同舟云学术

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Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement

Published:2018-03 Issue:3 Volume:123 Page:337-346
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Ahrens-Nicklas Rebecca,Schlotawa Lars^ORCID,Ballabio Andrea^ORCID,Brunetti-Pierri Nicola,De Castro Mauricio^ORCID,Dierks Thomas,Eichler Florian,Ficicioglu Can^ORCID,Finglas Alan,Gaertner Jutta,Kirmse Brian,Klepper Joerg,Lee Marcus^ORCID,Olsen Amber,Parenti Giancarlo,Vossough Arastoo^ORCID,Vanderver Adeline,Adang Laura A.

Funder

National Institutes of Health

The Children's Hospital of Philadelphia Research Institute

Lysosomal Disease Network

NIH

Deutsche Forschungsgemeinschaft

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference87 articles.

1. Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme;Dierks;Cell,2003

2. The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases;Cosma;Cell,2003

3. Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme;Dierks;Cell,2005

4. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship;Sardiello;Hum. Mol. Genet.,2005

5. Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins;Dierks;Biochim. Biophys. Acta,2009

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