Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?

por Lucaccioni, Laura, Schwahn, Bernd C, Donaldson, Malcolm, Giacomozzi, Claudio
Publicado 2014

Molybdenum cofactor deficiency: A natural history

por Spiegel, Ronen, Schwahn, Bernd C., Squires, Liza, Confer, Nils
Publicado 2022

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

por Puisac, Beatriz, Marcos-Alcalde, Iñigo, Hernández-Marcos, María, Tobajas Morlana, Pilar, Levtova, Alina, Schwahn, Bernd C., DeLaet, Corinne, Lace, Baiba, Gómez-Puertas, Paulino, Pié, Juan
Publicado 2018

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

por Schwahn, Bernd C., Scheffner, Thomas, Stepman, Hedwig, Verloo, Peter, Das, Anibh M, Fletcher, Janice, Blom, Henk J, Benoist, Jean‐Francois, Barshop, Bruce A., Barea, Jaime J., Feigenbaum, Annette
Publicado 2020

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H(2)S homeostasis

por Kožich, Viktor, Schwahn, Bernd C, Sokolová, Jitka, Křížková, Michaela, Ditroi, Tamas, Krijt, Jakub, Khalil, Youssef, Křížek, Tomáš, Vaculíková-Fantlová, Tereza, Stibůrková, Blanka, Mills, Philippa, Clayton, Peter, Barvíková, Kristýna, Blessing, Holger, Sykut-Cegielska, Jolanta, Dionisi-Vici, Carlo, Gasperini, Serena, García-Cazorla, Ángeles, Haack, Tobias B, Honzík, Tomáš, Ješina, Pavel, Kuster, Alice, Laugwitz, Lucia, Martinelli, Diego, Porta, Francesco, Santer, René, Schwarz, Guenter, Nagy, Peter
Publicado 2022