TY  - JOUR
AU  - Heringer, Jana
AU  - Valayannopoulos, Vassili
AU  - Lund, Allan M
AU  - Wijburg, Frits A
AU  - Freisinger, Peter
AU  - Baric, Ivo
AU  - Baumgartner, Matthias R
AU  - Burgard, Peter
AU  - Burlina, Alberto B
AU  - Chapman, Kimberly A
AU  - Cortes-Saladelafont, Elisenda 
AU  - Karall, Daniela
AU  - Muhlhausen, Chris
AU  - Riches, Victoria
AU  - Schiff, Manuel
AU  - Sykut-Cegielska, Jolanta
AU  - Walter, John H
AU  - Zeman, Jiri
AU  - Chabrol, Brigitte
AU  - Kölker, Stefan
PY  - 2015
DO  - 10.1007/s10545-015-9907-8
UR  - https://hdl.handle.net/10668/25714
T2  - Journal of inherited metabolic disease
AB  - To describe current diagnostic and therapeutic strategies in organic acidurias (OADs) and to evaluate their impact on the disease course allowing harmonisation. Datasets of 567 OAD patients from the E-IMD registry were analysed. The sample includes...
LA  - en
PB  - John Wiley & Sons
KW  - Age of Onset
KW  - Amino Acid Metabolism, Inborn Errors
KW  - Amino Acid Transport Disorders, Inborn
KW  - Brain Diseases, Metabolic
KW  - Adolescent
KW  - Adult
KW  - Brain Diseases, Metabolic, Inborn
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Glutaryl-CoA Dehydrogenase
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Intellectual Disability
KW  - Male
KW  - Metabolic Diseases
KW  - Methylmalonic Acid
KW  - Middle Aged
KW  - Neonatal Screening
KW  - Vitamin B 12
KW  - Young Adult
TI  - Impact of age at onset and newborn screening on outcome in organic acidurias.
TY  - research article
VL  - 39
ER  -