Literature DB >> 28435156

Polycystic kidney disease: PMM2 mutation causes PKD and hyperinsulinism.

Ellen F Carney.   

Abstract

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Year:  2017        PMID： 28435156     DOI： 10.1038/nrneph.2017.58

Source DB:  PubMed          Journal:  Nat Rev Nephrol        ISSN： 1759-5061            Impact factor:   28.314


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  1 in total

1.  Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Authors:  Oscar Rubio Cabezas; Sarah E Flanagan; Horia Stanescu; Elena García-Martínez; Richard Caswell; Hana Lango-Allen; Montserrat Antón-Gamero; Jesús Argente; Anna-Marie Bussell; Andre Brandli; Chris Cheshire; Elizabeth Crowne; Simona Dumitriu; Robert Drynda; Julian P Hamilton-Shield; Wesley Hayes; Alexis Hofherr; Daniela Iancu; Naomi Issler; Craig Jefferies; Peter Jones; Matthew Johnson; Anne Kesselheim; Enriko Klootwijk; Michael Koettgen; Wendy Lewis; José María Martos; Monika Mozere; Jill Norman; Vaksha Patel; Andrew Parrish; Celia Pérez-Cerdá; Jesús Pozo; Sofia A Rahman; Neil Sebire; Mehmet Tekman; Peter D Turnpenny; William Van't Hoff; Daan H H M Viering; Michael N Weedon; Patricia Wilson; Lisa Guay-Woodford; Robert Kleta; Khalid Hussain; Sian Ellard; Detlef Bockenhauer
Journal:  J Am Soc Nephrol       Date:  2017-04-03       Impact factor: 10.121
  1 in total
  1 in total

Review 1.  Glycomic and Glycoproteomic Techniques in Neurodegenerative Disorders and Neurotrauma: Towards Personalized Markers.

Authors:  Firas Kobeissy; Abir Kobaisi; Wenjing Peng; Chloe Barsa; Mona Goli; Ahmad Sibahi; Samer El Hayek; Samar Abdelhady; Muhammad Ali Haidar; Mirna Sabra; Matej Orešič; Giancarlo Logroscino; Stefania Mondello; Ali H Eid; Yehia Mechref
Journal:  Cells       Date:  2022-02-08       Impact factor: 6.600
  1 in total

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