The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation-Reference-Cited by-同舟云学术

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Published:2015-04-15 Issue:6 Volume:38 Page:1041-1057
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Kölker Stefan,Cazorla Angeles Garcia,Valayannopoulos Vassili,Lund Allan M.,Burlina Alberto B.,Sykut-Cegielska Jolanta,Wijburg Frits A.,Teles Elisa Leão,Zeman Jiri,Dionisi-Vici Carlo,Barić Ivo,Karall Daniela,Augoustides-Savvopoulou Persephone,Aksglaede Lise,Arnoux Jean-Baptiste,Avram Paula,Baumgartner Matthias R.,Blasco-Alonso Javier,Chabrol Brigitte,Chakrapani Anupam,Chapman Kimberly,i Saladelafont Elisenda Cortès,Couce Maria L.,de Meirleir Linda,Dobbelaere Dries,Dvorakova Veronika,Furlan Francesca,Gleich Florian,Gradowska Wanda,Grünewald Stephanie,Jalan Anil,Häberle Johannes,Haege Gisela,Lachmann Robin,Laemmle Alexander,Langereis Eveline,de Lonlay Pascale,Martinelli Diego,Matsumoto Shirou,Mühlhausen Chris,de Baulny Hélène Ogier,Ortez Carlos,Peña-Quintana Luis,Ramadža Danijela Petković,Rodrigues Esmeralda,Scholl-Bürgi Sabine,Sokal Etienne,Staufner Christian,Summar Marshall L.,Thompson Nicholas,Vara Roshni,Pinera Inmaculada Vives,Walter John H.,Williams Monique,Burgard Peter

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-015-9839-3

Reference65 articles.

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2. Members of the Urea Cycle Disorders Consortium, Batshaw ML, Tuchman M, Summar M, Seminara J (2014) A longitudinal study of urea cycle disorders. Mol Genet Metab 113:127–130

3. Baumgartner MR, Hörster F, Dionisi-Vici C et al (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis 9:130

4. Boy N, Haege G, Heringer J et al (2013) Low lysine diet in glutaric aciduria type I — effect on anthropometrical and biochemical follow-up parameters. J Inherit Metab Dis 36:525–533

5. Burgard P, Rupp K, Lindner M et al (2012) Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance. J Inherit Metab Dis 35:613–625

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