Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family-Reference-Cited by-同舟云学术

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Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family

Published:2020-12 Issue: Volume:82 Page:214-218
ISSN:0967-5868
Container-title:Journal of Clinical Neuroscience
language:en
Short-container-title:Journal of Clinical Neuroscience

Author:

Gun Bilgic Dilek,Gerik Celebi Hamide Betul,Aydin Gumus Aydeniz,Bilgic Abdulkadir,Yazici Havva,Ceylaner Serdar,Yilmaz Celil,Polat Muzaffer,Akbal Sahin Melike,Dereli Fatma,Cam Fethi Sirri

Publisher

Elsevier BV

Subject

Physiology (medical),Clinical Neurology,Neurology,General Medicine,Surgery

Reference32 articles.

1. Overview of the mucopolysaccharidoses;Muenzer;Rheumatology,2011

2. Sanfilippo syndrome: Overall review;Andrade;Pediatrics International,2015

3. Identification and characterization of a novel homozygous deletion in the α-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB);Champion;Molecular Genetics and Metabolism,2010

4. Sanfilippo syndrome: a mini-review;Valstar;Journal of Inherited Metabolic Disease,2008

5. Inborn metabolic diseases;Saudubray,2012

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