Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

<p>Abstract</p> <p>Background</p> <p>Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited.</p>...

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Main Authors: Grünert Sarah C, Müllerleile Stephanie, De Silva Linda, Barth Michael, Walter Melanie, Walter Kerstin, Meissner Thomas, Lindner Martin, Ensenauer Regina, Santer René, Bodamer Olaf A, Baumgartner Matthias R, Brunner-Krainz Michaela, Karall Daniela, Haase Claudia, Knerr Ina, Marquardt Thorsten, Hennermann Julia B, Steinfeld Robert, Beblo Skadi, Koch Hans-Georg, Konstantopoulou Vassiliki, Scholl-Bürgi Sabine, van Teeffelen-Heithoff Agnes, Suormala Terttu, Sperl Wolfgang, Kraus Jan P, Superti-Furga Andrea, Schwab Karl Otfried, Sass Jörn Oliver
Format: Article
Language:English
Published: BMC 2013-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Propionic acidemia
Branched-chain amino acids
Outcome
Quality of life
Clinical course
Physical development
Neurocognitive development
IQ
Long-term complications
Propionyl-coenzyme A carboxylase deficiency
Online Access:http://www.ojrd.com/content/8/1/6

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http://www.ojrd.com/content/8/1/6

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