The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update onGNPTABandGNPTGmutations-Reference-Cited by-同舟云学术

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update onGNPTABandGNPTGmutations

Published:2019-04-13 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Velho Renata Voltolini¹,Harms Frederike L.²,Danyukova Tatyana¹,Ludwig Nataniel F.³⁴,Friez Michael J.⁵,Cathey Sara S.⁵,Filocamo Mirella⁶,Tappino Barbara⁶,Güneş Nilay⁷,Tüysüz Beyhan⁷,Tylee Karen L.⁸,Brammeier Kathryn L.⁸,Heptinstall Lesley⁹,Oussoren Esmee¹⁰,Ploeg Ans T.¹⁰,Petersen Christine²,Alves Sandra¹¹,Saavedra Gloria Durán¹²,Schwartz Ida V.³⁴,Muschol Nicole¹³,Kutsche Kerstin²^ORCID,Pohl Sandra¹^ORCID

Affiliation:

1. Section Cell Biology of Rare Diseases, Department of Osteology and BiomechanicsUniversity Medical Center Hamburg‐EppendorfHamburg Germany

2. Institute of Human GeneticsUniversity Medical Center Hamburg‐EppendorfHamburg Germany

3. Department of GeneticsFederal University of Rio Grande do SulPorto Alegre Brazil

4. Post‐Graduation Program in Genetics and Molecular BiologyFederal University of Rio Grande do SulPorto Alegre Brazil

5. Greenwood Genetic CenterGreenwood South Carolina

6. Laboratorio di Genetica Molecolare e BiobancheIstituto Giannina GasliniGenova Italy

7. Department of Pediatric GeneticsIstanbul University Cerrahpasa, Medicine SchoolIstanbul Turkey

8. Willink Biochemical Genetics UnitManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Saint Mary's HospitalManchester UK

9. Genomic Diagnostics LaboratoryManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Saint Mary's HospitalManchester UK

10. Department of PediatricsCenter for LyMannose phosphorylation in health and diseasesosomal and Metabolic Diseases, Erasmus MC University Medical CenterRotterdam The Netherlands

11. Department of Human GeneticsINSA, National Health Institute Doutor Ricardo JorgePorto Portugal

12. División de PediatríaEscuela de Medicina, Pontificia Universidad Católica de ChileSantiago Chile

13. International Center for Lysosomal DisordersUniversity Medical Center Hamburg‐EppendorfHamburg Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23748

Reference121 articles.

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2. Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report;Alegra T.;Meta Gene,2014

3. Mucolipidosis II: First report from Saudi Arabia;Alfadhel M.;Annals of Saudi Medicine,2013

4. Bovine UDP‐N‐acetylglucosamine:Lysosomal‐enzyme N‐acetylglucosamine‐1‐phosphotransferase. I. Purification and subunit structure;Bao M.;The Journal of Biological Chemistry,1996

5. Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation;Barea J. J.;American Journal of Medical Genetics, Part A,2015

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4. Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations;Frontiers in Pediatrics;2023-07-06

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