Literature DB >> 20015125

Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists.

Sharath Kumar1.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2009        PMID: 20015125     DOI: 10.1111/j.1399-5448.2009.00518.x

Source DB:  PubMed          Journal:  Pediatr Diabetes        ISSN: 1399-543X            Impact factor:   4.866


× No keyword cloud information.
  23 in total

1.  Balance impairment in individuals with Wolfram syndrome.

Authors:  Kristen A Pickett; Ryan P Duncan; Alex R Paciorkowski; M Alan Permutt; Bess Marshall; Tamara Hershey; Gammon M Earhart
Journal:  Gait Posture       Date:  2012-07-06       Impact factor: 2.840

Review 2.  Ophthalmic manifestations of endocrine disorders-endocrinology and the eye.

Authors:  Alisha Kamboj; Michael Lause; Priyanka Kumar
Journal:  Transl Pediatr       Date:  2017-10

Review 3.  Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome.

Authors:  Felix Reschke; Julia Rohayem; Pietro Maffei; Francesca Dassie; Anke Schwandt; Carine de Beaufort; Sonia Toni; Agnieszka Szypowska; Roque Cardona-Hernandez; Nicolin Datz; Katharina Klee; Thomas Danne
Journal:  Endocrine       Date:  2021-02-01       Impact factor: 3.633

4.  Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome.

Authors:  James Hoekel; Smith Ann Chisholm; Amal Al-Lozi; Tamara Hershey; Lawrence Tychsen
Journal:  J AAPOS       Date:  2014-10-21       Impact factor: 1.220

5.  Natural history and clinical characteristics of 50 patients with Wolfram syndrome.

Authors:  Gema Esteban Bueno; Dyanne Ruiz-Castañeda; Javier Ruiz Martínez; Manuel Romero Muñoz; Pedro Carrillo Alascio
Journal:  Endocrine       Date:  2018-05-04       Impact factor: 3.633

6.  Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families.

Authors:  Maryam Sobhani; Mohammad Amin Tabatabaiefar; Asadollah Rajab; Abdol-Mohammad Kajbafzadeh; Mohammad Reza Noori-Daloii
Journal:  Mol Biol Rep       Date:  2014-08-31       Impact factor: 2.316

Review 7.  Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.

Authors:  Luciana Rigoli; Placido Bramanti; Chiara Di Bella; Filippo De Luca
Journal:  Pediatr Res       Date:  2018-02-28       Impact factor: 3.756

8.  Audiologic and vestibular findings in Wolfram syndrome.

Authors:  Roanne K Karzon; Timothy E Hullar
Journal:  Ear Hear       Date:  2013 Nov-Dec       Impact factor: 3.570

9.  Reliability and validity of the Wolfram Unified Rating Scale (WURS).

Authors:  Chau Nguyen; Erin R Foster; Alexander R Paciorkowski; Amy Viehoever; Colleen Considine; Aidena Bondurant; Bess A Marshall; Tamara Hershey
Journal:  Orphanet J Rare Dis       Date:  2012-11-14       Impact factor: 4.123

10.  Clinical utility gene card for: Wolfram syndrome.

Authors:  Mariya Moosajee; Patrick Yu-Wai-Man; Cécile Rouzier; Maria Bitner-Glindzicz; Richard Bowman
Journal:  Eur J Hum Genet       Date:  2016-05-25       Impact factor: 4.246

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.