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Literature DB >> 20188616

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.

Jennifer Seminara¹, Mendel Tuchman, Lauren Krivitzky, Jeffrey Krischer, Hye-Seung Lee, Cynthia Lemons, Matthias Baumgartner, Stephen Cederbaum, George A Diaz, Annette Feigenbaum, Renata C Gallagher, Cary O Harding, Douglas S Kerr, Brendan Lanpher, Brendan Lee, Uta Lichter-Konecki, Shawn E McCandless, J Lawrence Merritt, Mary Lou Oster-Granite, Margretta R Seashore, Tamar Stricker, Marshall Summar, Susan Waisbren, Marc Yudkoff, Mark L Batshaw.

Abstract

The Urea Cycle Disorders Consortium (UCDC) was created as part of a larger network established by the National Institutes of Health to study rare diseases. This paper reviews the UCDC's accomplishments over the first 6years, including how the Consortium was developed and organized, clinical research studies initiated, and the importance of creating partnerships with patient advocacy groups, philanthropic foundations and biotech and pharmaceutical companies. Published by Elsevier Inc.

Entities: Chemical Disease Gene Species

Mesh：

Year: 2010 PMID： 20188616 PMCID： PMC2858794 DOI： 10.1016/j.ymgme.2010.01.014

Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797

16 in total

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5. Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.

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Journal: Am J Med Genet Date: 2000-08-14

6. Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Authors: Mendel Tuchman; Brendan Lee; Uta Lichter-Konecki; Marshall L Summar; Marc Yudkoff; Stephen D Cederbaum; Douglas S Kerr; George A Diaz; Margaretta R Seashore; Hye-Seung Lee; Robert J McCarter; Jeffrey P Krischer; Mark L Batshaw
Journal: Mol Genet Metab Date: 2008-06-17 Impact factor: 4.797

7. Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.

Authors: M Msall; M L Batshaw; R Suss; S W Brusilow; E D Mellits
Journal: N Engl J Med Date: 1984-06-07 Impact factor: 91.245

8. An automated communication system in a Contact Registry for persons with rare diseases: tools for retaining potential clinical research participants.

Authors: Rachel L Richesson; Ken Young; Jennifer Lloyd; Tim Adams; Heather Guillette; Jamie Malloy; Jeffrey P Krischer
Journal: AMIA Annu Symp Proc Date: 2007-10-11

9. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.

Authors: M L Batshaw; Y Roan; A L Jung; L A Rosenberg; S W Brusilow
Journal: N Engl J Med Date: 1980-02-28 Impact factor: 91.245

10. Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency.

Authors: Kunsang Gyato; J Wray; Z J Huang; M Yudkoff; Mark L Batshaw
Journal: Ann Neurol Date: 2004-01 Impact factor: 10.422

39 in total

Review 1. Research challenges in central nervous system manifestations of inborn errors of metabolism.

Authors: P I Dickson; A R Pariser; S C Groft; R W Ishihara; D E McNeil; D Tagle; D J Griebel; S G Kaler; J W Mink; E G Shapiro; K J Bjoraker; L Krivitzky; J M Provenzale; A Gropman; P Orchard; G Raymond; B H Cohen; R D Steiner; S F Goldkind; R M Nelson; E Kakkis; M C Patterson
Journal: Mol Genet Metab Date: 2010-12-02 Impact factor: 4.797

2. Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years.

Authors: Peter Burgard; Stefan Kölker; Gisela Haege; Martin Lindner; Georg F Hoffmann
Journal: J Inherit Metab Dis Date: 2015-12-03 Impact factor: 4.982

3. Coverage of rare disease names in standard terminologies and implications for patients, providers, and research.

Authors: Kin Wah Fung; Rachel Richesson; Olivier Bodenreider
Journal: AMIA Annu Symp Proc Date: 2014-11-14

4. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Authors: Stefan Kölker; Vassili Valayannopoulos; Alberto B Burlina; Jolanta Sykut-Cegielska; Frits A Wijburg; Elisa Leão Teles; Jiri Zeman; Carlo Dionisi-Vici; Ivo Barić; Daniela Karall; Jean-Baptiste Arnoux; Paula Avram; Matthias R Baumgartner; Javier Blasco-Alonso; S P Nikolas Boy; Marlene Bøgehus Rasmussen; Peter Burgard; Brigitte Chabrol; Anupam Chakrapani; Kimberly Chapman; Elisenda Cortès I Saladelafont; Maria L Couce; Linda de Meirleir; Dries Dobbelaere; Francesca Furlan; Florian Gleich; Maria Julieta González; Wanda Gradowska; Stephanie Grünewald; Tomas Honzik; Friederike Hörster; Hariklea Ioannou; Anil Jalan; Johannes Häberle; Gisela Haege; Eveline Langereis; Pascale de Lonlay; Diego Martinelli; Shirou Matsumoto; Chris Mühlhausen; Elaine Murphy; Hélène Ogier de Baulny; Carlos Ortez; Consuelo C Pedrón; Guillem Pintos-Morell; Luis Pena-Quintana; Danijela Petković Ramadža; Esmeralda Rodrigues; Sabine Scholl-Bürgi; Etienne Sokal; Marshall L Summar; Nicholas Thompson; Roshni Vara; Inmaculada Vives Pinera; John H Walter; Monique Williams; Allan M Lund; Angeles Garcia-Cazorla; Angeles Garcia Cazorla
Journal: J Inherit Metab Dis Date: 2015-04-15 Impact factor: 4.982

5. On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases.

Authors: Marshall L Summar; Fumio Endo; Stefan Kölker
Journal: Mol Genet Metab Date: 2014 Sep-Oct Impact factor: 4.797

6. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.

Authors: Roland Posset; Sven F Garbade; Nikolas Boy; Alberto B Burlina; Carlo Dionisi-Vici; Dries Dobbelaere; Angeles Garcia-Cazorla; Pascale de Lonlay; Elisa Leão Teles; Roshni Vara; Nicholas Ah Mew; Mark L Batshaw; Matthias R Baumgartner; Shawn E McCandless; Jennifer Seminara; Marshall Summar; Georg F Hoffmann; Stefan Kölker; Peter Burgard
Journal: J Inherit Metab Dis Date: 2019-01 Impact factor: 4.982

7. Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.

Authors: Isabelle De Bie; Emmanuelle Lemyre; Marie Lambert
Journal: JIMD Rep Date: 2011-06-22