Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort-Reference-Cited by-同舟云学术

Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

Published:2020-12-08 Issue:1 Volume:58 Page:80-88
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Beck‐Wödl Stefanie¹,Kehrer Christiane²^ORCID,Harzer Klaus²,Haack Tobias B.¹,Bürger Friederike³,Haas Dorothea³,Rieß Angelika¹,Groeschel Samuel²,Krägeloh‐Mann Ingeborg²,Böhringer Judith²

Affiliation:

1. Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

2. Department of Neuropediatrics University Children's Hospital Tübingen Germany

3. Metabolic Centre University Children's Hospital Heidelberg Germany

Funder

Association Européenne contre les Leucodystrophies

Deutsche Forschungsgemeinschaft

Eberhard Karls Universität Tübingen

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12189

Reference41 articles.

1. A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency

2. A systematic cross-sectional survey of multiple sulfatase deficiency

3. Molecular and functional analysis ofSUMF1 mutations in multiple sulfatase deficiency

4. Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease

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

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2. Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review;BMC Pediatrics;2023-03-24

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