A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency-Reference-Cited by-同舟云学术

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

Published:2020-02-12 Issue:9 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Staretz‐Chacham Orna¹²³^ORCID,Schlotawa Lars⁴,Wormser Ohad⁵⁶,Golan‐Tripto Inbal³,Birk Ohad S.⁵⁶⁷,Ferreira Carlos R.⁸,Dierks Thomas⁹,Radhakrishnan Karthikeyan⁹^ORCID

Affiliation:

1. Metabolic Clinic Soroka University Medical Center Ben Gurion University Beer Sheva Israel

2. Neonatlogy Unit Soroka University Medical Center Ben Gurion University Beer Sheva Israel

3. Division of Pediatrics Soroka University Medical Center Ben Gurion University Beer Sheva Israel

4. Department of Paediatrics and Adolescent Medicine University Medical Center Goettingen Germany

5. The Morris Kahn Laboratory of Human Genetics National Institute for Biotechnology in the Negev and Faculty of Health Sciences Ben Gurion University of the Negev Beer Sheva Israel

6. Shraga Segal Department of Microbiology, Immunology and Genetics Ben Gurion University of the Negev Beer‐Sheva Israel

7. Genetic Institute Soroka University Medical Center Ben Gurion University Beer Sheva Israel

8. Medical Genomics and Metabolic Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda MD USA

9. Biochemistry I Faculty of Chemistry Bielefeld University Bielefeld Germany

Funder

Legacy Heritage Bio-Medical program of the Israel Science Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1167

Reference24 articles.

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

2. Multiple sulphatase deficiency presenting at birth

3. Neonatal manifestation of multiple sulfatase deficiency

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

5. Molecular Basis for Multiple Sulfatase Deficiency and Mechanism for Formylglycine Generation of the Human Formylglycine-Generating Enzyme

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