Genetic analysis of a novel <i>SUMF1</i> variation associated with a late infantile form of multiple sulfatase deficiency-Reference-Cited by-同舟云学术

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Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency

Published:2022-11-28 Issue:12 Volume:36 Page:
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:Clinical Laboratory Analysis

Author:

Zhang Jingjing¹,Ma Dingyuan¹,Liu Gang¹,Zeng Huasha¹,Wang Yuguo¹,Luo Chunyu¹,Hu Ping¹,Xu Zhengfeng¹^ORCID

Affiliation:

1. Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Women's Hospital of Nanjing Medical University Nanjing China

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry (medical),Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcla.24786

Reference26 articles.

1. Abnormal Sulphatase Activities in Two Human Diseases (Metachromatic Leucodystrophy and Gargoylism)

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

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

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

5. Pathochemistry, Pathogenesis and Enzyme Replacement in Multiple-Sulfatase Deficiency

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