Literature DB >> 28818836

The Care Continuum: An Evolving Model for Care and Research in Rare Diseases.

Erika F Augustine1,2, E Ray Dorsey3,2, Peter L Saltonstall4.   

Abstract

Mesh：

Year:  2017        PMID： 28818836     DOI： 10.1542/peds.2017-0108

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


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  6 in total

Review 1.  The case for open science: rare diseases.

Authors:  Yaffa R Rubinstein; Peter N Robinson; William A Gahl; Paul Avillach; Gareth Baynam; Helene Cederroth; Rebecca M Goodwin; Stephen C Groft; Mats G Hansson; Nomi L Harris; Vojtech Huser; Deborah Mascalzoni; Julie A McMurry; Matthew Might; Christoffer Nellaker; Barend Mons; Dina N Paltoo; Jonathan Pevsner; Manuel Posada; Alison P Rockett-Frase; Marco Roos; Tamar B Rubinstein; Domenica Taruscio; Esther van Enckevort; Melissa A Haendel
Journal:  JAMIA Open       Date:  2020-09-11

Review 2.  Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.

Authors:  Terry G J Derks; David F Rodriguez-Buritica; Ayesha Ahmad; Foekje de Boer; María L Couce; Sarah C Grünert; Philippe Labrune; Nerea López Maldonado; Carolina Fischinger Moura de Souza; Rebecca Riba-Wolman; Alessandro Rossi; Heather Saavedra; Rupal Naik Gupta; Vassili Valayannopoulos; John Mitchell
Journal:  Nutrients       Date:  2021-10-27       Impact factor: 5.717

3.  Health Care Transition From Pediatric- to Adult-Focused Care in X-linked Hypophosphatemia: Expert Consensus.

Authors:  Kathryn Dahir; Ruban Dhaliwal; Jill Simmons; Erik A Imel; Gary S Gottesman; John D Mahan; Gnanagurudasan Prakasam; Allison I Hoch; Prameela Ramesan; Maria Díaz-González de Ferris
Journal:  J Clin Endocrinol Metab       Date:  2022-02-17       Impact factor: 5.958

4.  A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.

Authors:  Irene J Hoogeveen; Fabian Peeks; Foekje de Boer; Charlotte M A Lubout; Tom J de Koning; Sebastiaan Te Boekhorst; Robert-Jan Zandvoort; Rob Burghard; Francjan J van Spronsen; Terry G J Derks
Journal:  J Inherit Metab Dis       Date:  2018-03-29       Impact factor: 4.982

5.  Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance.

Authors:  Fabian Peeks; Willemijn F Boonstra; Lut de Baere; Camilla Carøe; Thomas Casswall; Damián Cohen; Katherine Cowan; Iris Ferrecchia; Alberto Ferriani; Caroline Gimbert; Marcus Landgren; Nerea L Maldonado; Jason McMillan; Antal Nemeth; Niccolò Seidita; Ute Stachelhaus-Theimer; David A Weinstein; Terry G J Derks
Journal:  J Inherit Metab Dis       Date:  2019-11-13       Impact factor: 4.982

6.  Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents' experiences through a multicentre narrative medicine research.

Authors:  Letizia Ragusa; Antonio Crinò; Graziano Grugni; Luigi Reale; Alessandra Fiorencis; Maria Rosaria Licenziati; Maria Felicia Faienza; Malgorzata Wasniewska; Maurizio Delvecchio; Adriana Franzese; Irene Rutigliano; Paola Fusilli; Domenico Corica; Giuseppina Campana; Donatella Greco; Mariangela Chiarito; Michele Sacco; Silvia Toscano; Maria Giulia Marini
Journal:  BMJ Open       Date:  2020-08-06       Impact factor: 2.692
  6 in total

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