Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

BACKGROUND: 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 (NAG) synthase. Rapid reduction in pla...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Orphanet J Rare Dis
मुख्य लेखकों: Valayannopoulos, Vassili, Baruteau, Julien, Delgado, Maria Bueno, Cano, Aline, Couce, Maria L., Del Toro, Mireia, Donati, Maria Alice, Garcia-Cazorla, Angeles, Gil-Ortega, David, Gomez-de Quero, Pedro, Guffon, Nathalie, Hofstede, Floris C., Kalkan-Ucar, Sema, Coker, Mahmut, Lama-More, Rosa, Martinez-Pardo Casanova, Mercedes, Molina, Agustin, Pichard, Samia, Papadia, Francesco, Rosello, Patricia, Plisson, Celine, Le Mouhaer, Jeannie, Chakrapani, Anupam
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2016
विषय:
Research
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC4815113/
https://ncbi.nlm.nih.gov/pubmed/27030250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0406-2
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