Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
About this item
Full title
Author / Creator
Baumgartner, Matthias R , Hörster, Friederike , Dionisi-Vici, Carlo , Haliloglu, Goknur , Karall, Daniela , Chapman, Kimberly A , Huemer, Martina , Hochuli, Michel , Assoun, Murielle , Ballhausen, Diana , Burlina, Alberto , Fowler, Brian , Grünert, Sarah C , Grünewald, Stephanie , Honzik, Tomas , Merinero, Begoña , Pérez-Cerdá, Celia , Scholl-Bürgi, Sabine , Skovby, Flemming , Wijburg, Frits , MacDonald, Anita , Martinelli, Diego , Sass, Jörn Oliver , Valayannopoulos, Vassili and Chakrapani, Anupam
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: 50,000 and PA of ~ 1:100'000 -150,000. Patients present either shortly...
Alternative Titles
Full title
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Authors, Artists and Contributors
Author / Creator
Hörster, Friederike
Dionisi-Vici, Carlo
Haliloglu, Goknur
Karall, Daniela
Chapman, Kimberly A
Huemer, Martina
Hochuli, Michel
Assoun, Murielle
Ballhausen, Diana
Burlina, Alberto
Fowler, Brian
Grünert, Sarah C
Grünewald, Stephanie
Honzik, Tomas
Merinero, Begoña
Pérez-Cerdá, Celia
Scholl-Bürgi, Sabine
Skovby, Flemming
Wijburg, Frits
MacDonald, Anita
Martinelli, Diego
Sass, Jörn Oliver
Valayannopoulos, Vassili
Chakrapani, Anupam
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4180313
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4180313
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-014-0130-8
