Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observationa...

由 de Lonlay, Pascale, Posset, Roland, Mütze, Ulrike, Mention, Karine, Lamireau, Delphine, Schiff, Manuel, Servais, Aude, Arnoux, Jean Baptiste, Brassier, Anaïs, Dao, Myriam, Douillard, Claire, Ottolenghi, Chris, Pontoizeau, Clément, Miotto, Federica, Le Mouhaër, Jeannie
發表在 JIMD Rep (2021)

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

由 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
發表在 Orphanet J Rare Dis (2016)