Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease-Reference-Cited by-同舟云学术

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

Published:2020-08-20 Issue:6 Volume:43 Page:1298-1309
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Adang Laura A.¹^ORCID,Schlotawa Lars²,Groeschel Samuel³,Kehrer Christiane³,Harzer Klaus³,Staretz‐Chacham Orna⁴,Silva Thiago Oliveira⁵,Schwartz Ida Vanessa D.⁵,Gärtner Jutta²,De Castro Mauricio⁶,Costin Carrie⁷,Montgomery Esperanza Font⁸,Dierks Thomas⁹,Radhakrishnan Karthikeyan⁹,Ahrens‐Nicklas Rebecca C.¹⁰

Affiliation:

1. Division of Neurology The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Department of Pediatrics and Adolescent Medicine University Medical Centre Göttingen Germany

3. University Children's Hospital Tuebingen Germany

4. Division of Pediatrics Metabolic Clinic Soroka Medical Centre Beersheva Israel

5. Nuclimed‐Clinical Research Center, Hospital de Clinicas de Porto Alegre‐RS Porto Alegre Brazil

6. Air Force Medical Genetics Center, Keesler AFB Biloxi Mississippi USA

7. Akron Children's Hospital Akron Ohio USA

8. Division of Pediatric Genetics University of Missouri School of Medicine Columbia Missouri USA

9. Department of Chemistry, Biochemistry I Bielefeld University Bielefeld Germany

10. Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania USA

Funder

National Center for Advancing Translational Sciences

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12298

Reference24 articles.

1. Multiple Sulfatase Deficiency Is Caused by Mutations in the Gene Encoding the Human Cα-Formylglycine Generating Enzyme

2. The Multiple Sulfatase Deficiency Gene Encodes an Essential and Limiting Factor for the Activity of Sulfatases