A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)

Homozygous or compound heterozygous mutation in the gene encoding N‐alpha‐acetylglucosaminidase (NAGLU) on chromosome 17q21 results in Sanfilippo B, resulting in excess accumulation of intralysosomal glycosaminoglycans (mucopolysaccharides) in various tissues. We wish to report a novel homozygous va...

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Autores principales: Hettiarachchi, Dineshani, Nethikumara, Nilaksha, Pathirana, Bamunu Arachchi Pathiranage Sajeewani, Weththasigha, Kalum, Dissanayake, Weerabaddana Dilshani Niluka, Dissanayake, Vajira H. W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986016/
https://www.ncbi.nlm.nih.gov/pubmed/29881562
http://dx.doi.org/10.1002/ccr3.1521
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author Hettiarachchi, Dineshani
Nethikumara, Nilaksha
Pathirana, Bamunu Arachchi Pathiranage Sajeewani
Weththasigha, Kalum
Dissanayake, Weerabaddana Dilshani Niluka
Dissanayake, Vajira H. W.
author_facet Hettiarachchi, Dineshani
Nethikumara, Nilaksha
Pathirana, Bamunu Arachchi Pathiranage Sajeewani
Weththasigha, Kalum
Dissanayake, Weerabaddana Dilshani Niluka
Dissanayake, Vajira H. W.
author_sort Hettiarachchi, Dineshani
collection PubMed
description Homozygous or compound heterozygous mutation in the gene encoding N‐alpha‐acetylglucosaminidase (NAGLU) on chromosome 17q21 results in Sanfilippo B, resulting in excess accumulation of intralysosomal glycosaminoglycans (mucopolysaccharides) in various tissues. We wish to report a novel homozygous variant in a child with features of Sanfilippo syndrome B.
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spelling pubmed-59860162018-06-07 A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B) Hettiarachchi, Dineshani Nethikumara, Nilaksha Pathirana, Bamunu Arachchi Pathiranage Sajeewani Weththasigha, Kalum Dissanayake, Weerabaddana Dilshani Niluka Dissanayake, Vajira H. W. Clin Case Rep Case Reports Homozygous or compound heterozygous mutation in the gene encoding N‐alpha‐acetylglucosaminidase (NAGLU) on chromosome 17q21 results in Sanfilippo B, resulting in excess accumulation of intralysosomal glycosaminoglycans (mucopolysaccharides) in various tissues. We wish to report a novel homozygous variant in a child with features of Sanfilippo syndrome B. John Wiley and Sons Inc. 2018-04-14 /pmc/articles/PMC5986016/ /pubmed/29881562 http://dx.doi.org/10.1002/ccr3.1521 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Hettiarachchi, Dineshani
Nethikumara, Nilaksha
Pathirana, Bamunu Arachchi Pathiranage Sajeewani
Weththasigha, Kalum
Dissanayake, Weerabaddana Dilshani Niluka
Dissanayake, Vajira H. W.
A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)
title A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)
title_full A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)
title_fullStr A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)
title_full_unstemmed A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)
title_short A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)
title_sort novel mutation in the naglu gene associated with sanfilippo syndrome type b (mucopolysaccharidosis iii b)
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986016/
https://www.ncbi.nlm.nih.gov/pubmed/29881562
http://dx.doi.org/10.1002/ccr3.1521
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