Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient-Reference-Cited by-同舟云学术

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient

Published:2019-08-20 Issue:1 Volume:49 Page:48-52
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Schlotawa Lars¹^ORCID,Dierks Thomas²,Christoph Sophie³,Cloppenburg Eva⁴,Ohlenbusch Andreas¹,Korenke G. Christoph³,Gärtner Jutta¹

Affiliation:

1. Department of Paediatrics and Adolescent Medicine University Medical Center Göttingen Göttingen Germany

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

3. Department of Child Neurology and Metabolic Disorders, Medical Centre Oldenburg University Children's Hospital Oldenburg Oldenburg Germany

4. Department of Neonatology, Intensive Care Medicine and Paediatric Cardiology, Medical Centre Oldenburg University Children's Hospital Oldenburg Oldenburg Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12074

Reference20 articles.

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

2. SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

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

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

5. Multiple sulfatase deficiency is due to hypomorphic mutations of theSUMF1 gene

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