TY - JOUR AU - Valayannopoulos, Vassili AU - Baruteau, Julien AU - Delgado, Maria Bueno AU - Cano, Aline AU - Couce, Maria L AU - Del Toro, Mireia AU - Donati, Maria Alice AU - Garcia-Cazorla, Angeles AU - Gil-Ortega, David AU - Gomez-de Quero, Pedro AU - Guffon, Nathalie AU - Hofstede, Floris C AU - Kalkan-Ucar, Sema AU - Coker, Mahmut AU - Lama-More, Rosa AU - Martinez-Pardo Casanova, Mercedes AU - Molina, Agustin AU - Pichard, Samia AU - Papadia, Francesco AU - Rosello, Patricia AU - Plisson, Celine AU - Le Mouhaer, Jeannie AU - Chakrapani, Anupam PY - 2016 DO - 10.1186/s13023-016-0406-2 UR - http://hdl.handle.net/10668/9959 T2 - Orphanet journal of rare diseases AB - Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N-acetylglutamate... LA - en KW - Carglumic acid KW - Hyperammonaemia KW - OA decompensation episodes KW - Organic acidurias (OAs) KW - Amino Acid Metabolism, Inborn Errors KW - Ammonia KW - Female KW - Glutamates KW - Humans KW - Hyperammonemia KW - Infant, Newborn KW - Male KW - Propionic Acidemia KW - Retrospective Studies KW - Treatment Outcome TI - Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study. TY - research article VL - 11 ER -