Literature DB >> 21908219

Propionic acidemia consensus conference summary.

Kimberly A Chapman1, Marshall L Summar.   

Abstract

In January 2011, Children's National Medical Center in Washington, D.C. hosted a consensus conference to discuss and develop recommendations for the diagnosis and management of propionic acidemia. Several resulting manuscripts from this conference are included in this issue. Topics covered include recommendations for acute management of metabolic decompensations, recommendations for chronic management and health monitoring, natural history of disease in patients with propionic acidemia, and neurologic complications in propionic acidemia.
Copyright © 2011 Elsevier Inc. All rights reserved.

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Year:  2011        PMID： 21908219     DOI： 10.1016/j.ymgme.2011.08.007

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


  5 in total

Review 1.  Methylmalonic and propionic acidemias: clinical management update.

Authors:  Jamie L Fraser; Charles P Venditti
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856

2.  Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.

Authors:  Marwan Nashabat; Abdulrahman Obaid; Fuad Al Mutairi; Mohammed Saleh; Mohammed Elamin; Hind Ahmed; Faroug Ababneh; Wafaa Eyaid; Abdulrahman Alswaid; Lina Alohali; Eissa Faqeih; Majed Aljeraisy; Mohamed A Hussein; Ali Alasmari; Majid Alfadhel
Journal:  BMC Pediatr       Date:  2019-06-13       Impact factor: 2.125

3.  Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child.

Authors:  Jae Young Choe; Kyung Mi Jang; So Yoon Min; Su Kyeong Hwang; Ben Kang; Byung Ho Choe
Journal:  J Korean Med Sci       Date:  2019-12-09       Impact factor: 2.153

Review 4.  Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Authors:  Matthias R Baumgartner; Friederike Hörster; Carlo Dionisi-Vici; Goknur Haliloglu; Daniela Karall; Kimberly A Chapman; Martina Huemer; Michel Hochuli; Murielle Assoun; Diana Ballhausen; Alberto Burlina; Brian Fowler; Sarah C Grünert; Stephanie Grünewald; Tomas Honzik; Begoña Merinero; Celia Pérez-Cerdá; Sabine Scholl-Bürgi; Flemming Skovby; Frits Wijburg; Anita MacDonald; Diego Martinelli; Jörn Oliver Sass; Vassili Valayannopoulos; Anupam Chakrapani
Journal:  Orphanet J Rare Dis       Date:  2014-09-02       Impact factor: 4.123

5.  Domino Liver Transplantation from a Child with Propionic Acidemia to a Child with Idiopathic Fulminant Hepatic Failure.

Authors:  Marina Moguilevitch; Ellise Delphin
Journal:  Case Rep Transplant       Date:  2018-03-14
  5 in total

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