Literature DB >> 23035044

The battlefield of rare diseases: where uncommon insights are common.

William A Gahl.   

Abstract

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Year:  2012        PMID： 23035044      PMCID： PMC3790314          DOI： 10.1126/scitranslmed.3004980

Source DB:  PubMed          Journal:  Sci Transl Med        ISSN： 1946-6234            Impact factor:   17.956


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  5 in total

1.  NT5E mutations and arterial calcifications.

Authors:  Cynthia St Hilaire; Shira G Ziegler; Thomas C Markello; Alfredo Brusco; Catherine Groden; Fred Gill; Hannah Carlson-Donohoe; Robert J Lederman; Marcus Y Chen; Dan Yang; Michael P Siegenthaler; Carlo Arduino; Cecilia Mancini; Bernard Freudenthal; Horia C Stanescu; Anselm A Zdebik; R Krishna Chaganti; Robert L Nussbaum; Robert Kleta; William A Gahl; Manfred Boehm
Journal:  N Engl J Med       Date:  2011-02-03       Impact factor: 91.245

2.  Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.

Authors:  Ighovie F Onojafe; David R Adams; Dimitre R Simeonov; Jun Zhang; Chi-Chao Chan; Isa M Bernardini; Yuri V Sergeev; Monika B Dolinska; Ramakrishna P Alur; Murray H Brilliant; William A Gahl; Brian P Brooks
Journal:  J Clin Invest       Date:  2011-10       Impact factor: 14.808

3.  Improved renal function in children with cystinosis treated with cysteamine.

Authors:  T C Markello; I M Bernardini; W A Gahl
Journal:  N Engl J Med       Date:  1993-04-22       Impact factor: 91.245

4.  Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.

Authors:  Belinda Galeano; Riko Klootwijk; Irini Manoli; MaoSen Sun; Carla Ciccone; Daniel Darvish; Matthew F Starost; Patricia M Zerfas; Victoria J Hoffmann; Shelley Hoogstraten-Miller; Donna M Krasnewich; William A Gahl; Marjan Huizing
Journal:  J Clin Invest       Date:  2007-06       Impact factor: 14.808

5.  Natural history of alkaptonuria.

Authors:  Chanika Phornphutkul; Wendy J Introne; Monique B Perry; Isa Bernardini; Mark D Murphey; Diana L Fitzpatrick; Paul D Anderson; Marjan Huizing; Yair Anikster; Lynn H Gerber; William A Gahl
Journal:  N Engl J Med       Date:  2002-12-26       Impact factor: 91.245
  5 in total
  5 in total

1.  Important role of translational science in rare disease innovation, discovery, and drug development.

Authors:  Anne R Pariser; William A Gahl
Journal:  J Gen Intern Med       Date:  2014-08       Impact factor: 5.128

Review 2.  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

3.  3-Dimensional Facial Analysis-Facing Precision Public Health.

Authors:  Gareth Baynam; Alicia Bauskis; Nicholas Pachter; Lyn Schofield; Hedwig Verhoef; Richard L Palmer; Stefanie Kung; Petra Helmholz; Michael Ridout; Caroline E Walker; Anne Hawkins; Jack Goldblatt; Tarun S Weeramanthri; Hugh J S Dawkins; Caron M Molster
Journal:  Front Public Health       Date:  2017-04-10

Review 4.  Applying Precision Public Health to Prevent Preterm Birth.

Authors:  John P Newnham; Matthew W Kemp; Scott W White; Catherine A Arrese; Roger J Hart; Jeffrey A Keelan
Journal:  Front Public Health       Date:  2017-04-04

5.  Childhood rare diseases and the UN convention on the rights of the child.

Authors:  Lisa Matthews; Vaughan Chin; Marisa Taliangis; Amanda Samanek; Gareth Baynam
Journal:  Orphanet J Rare Dis       Date:  2021-12-24       Impact factor: 4.123
  5 in total

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