Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?-Reference-Cited by-同舟云学术

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Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

Published:2016-01-08 Issue:5 Volume:170 Page:1187-1195
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Tüysüz Beyhan¹,Ercan-Sencicek Adife Gülhan²,Canpolat Nur³,Koparır Asuman¹,Yılmaz Saliha²,Kılıçaslan Işın⁴,Gülez Burcu²,Bilguvar Kaya²,Günel Murat²

Affiliation:

1. Department of Pediatric Genetics; Cerrahpasa Medical School; Istanbul University; Istanbul Turkey

2. Department of Neurosurgery; Program on Neurogenetics; Yale School of Medicine; New Haven Connecticut

3. Department of Pediatric Nephrology; Cerrahpasa Medical School; Istanbul University; Istanbul Turkey

4. Department of Pathology; Istanbul Medical School; Istanbul University; Istanbul Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37543/fullpdf

Reference19 articles.

1. When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients;Bargal;Mol Genet Metab,2006

2. Defective proximal tubular function in a patient with I-cell disease;Bocca;Pediatr Nephrol,2003

3. Molecular order in mucolipidosis II and III nomenclature;Cathey;Am J Med Genet A,2008

4. Phenotype and genotype in mucolipidoses II and III alpha/beta: A study of 61 probands;Cathey;J Med Genet,2010

5. Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO;Clark;Science,2013

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Lysosome function in glomerular health and disease;Cell and Tissue Research;2021-01-12

2. Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria;Journal of the American Society of Nephrology;2020-07-08

3. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update onGNPTABandGNPTGmutations;Human Mutation;2019-04-13

4. Recycling of Golgi glycosyltransferases requires direct binding to coatomer;Proceedings of the National Academy of Sciences;2018-08-20

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