Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study von Schwahn, Bernd C, Dr, Van Spronsen, Francjan J, Prof, Belaidi, Abdel A, PhD, Bowhay, Stephen, BSc, Christodoulou, John, Prof, Derks, Terry G, MD, Hennermann, Julia B, Prof, Jameson, Elisabeth, MBBCh, König, Kai, MD, McGregor, Tracy L, MD, Font-Montgomery, Esperanza, MD, Santamaria-Araujo, José A, PhD, Santra, Saikat, MBBCh, Vaidya, Mamta, MD, Vierzig, Anne, MD, Wassmer, Evangeline, MD, Weis, Ilona, MD, Wong, Flora Y, PhD, Veldman, Alex, MD, Schwarz, Günter, Prof

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

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Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency von Morris, Andrew A.M., Cuenoud, Bernard, Delerive, Philippe, Mundy, Helen, Schwahn, Bernd C.

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Osmotic regulation of hepatic betaine metabolism von Hoffmann, Lars, Brauers, Gernot, Gehrmann, Thor, Häussinger, Dieter, Mayatepek, Ertan, Schliess, Freimut, Schwahn, Bernd C

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Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis von 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

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Molybdenum cofactor deficiency: A natural history von Spiegel, Ronen, Schwahn, Bernd C., Squires, Liza, Confer, Nils

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Infertility in 5,10-Methylenetetrahydrofolate Reductase (MTHFR)-Deficient Male Mice Is Partially Alleviated by Lifetime Dietary Betaine Supplementation von KELLY, Tamara L. J, NEAGA, Oana R, SCHWAHN, Bernd C, ROZEN, Rima, TRASLER, Jacquetta M

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

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Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies von Schwahn, Bernd C., Spronsen, Francjan, Misko, Albert, Pavaine, Julija, Holmes, Victoria, Spiegel, Ronen, Schwarz, Guenter, Wong, Flora, Horman, Alistair, Pitt, James, Sass, Jörn Oliver, Lubout, Charlotte

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cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant von Schwahn, Bernd C., Hart, Claire, Smith, Louisa Ann, Hart, Anthony, Fairbanks, Lynette, Arenas-Hernandez, Monica, Turner, Charles, Horman, Alistair, Rust, Stewart, Santamaria-Araujo, José A., Mayr, Simon J., Schwarz, Günter, Sharrard, Mark

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Clinical presentation and outcome in a series of 88 patients with the cblC defect von Fischer, Sabine, Huemer, Martina, Baumgartner, Matthias, Deodato, Federica, Ballhausen, Diana, Boneh, Avihu, Burlina, Alberto B., Cerone, Roberto, Garcia, Paula, Gökçay, Gülden, Grünewald, Stephanie, Häberle, Johannes, Jaeken, Jaak, Ketteridge, David, Lindner, Martin, Mandel, Hanna, Martinelli, Diego, Martins, Esmeralda G., Schwab, Karl O., Gruenert, Sarah C., Schwahn, Bernd C., Sztriha, László, Tomaske, Maren, Trefz, Friedrich, Vilarinho, Laura, Rosenblatt, David S., Fowler, Brian, Dionisi-Vici, Carlo

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Severe Methylenetetrahydrofolate Reductase Deficiency: Clinical Clues to a Potentially Treatable Cause of Adult-Onset Hereditary Spastic Paraplegia von Lossos, Alexander, Teltsh, Omri, Milman, Tsipi, Meiner, Vardiella, Rozen, Rima, Leclerc, Daniel, Schwahn, Bernd C, Karp, Natalya, Rosenblatt, David S, Watkins, David, Shaag, Avraham, Korman, Stanley H, Heyman, Samuel N, Gal, Aya, Newman, J. P, Steiner-Birmanns, Bettina, Abramsky, Oded, Kohn, Yoav

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Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency von SCHWAHN, Bernd C., LARYEA, Maurice D., CHEN, Zhoutao, MELNYK, Stepan, POGRIBNY, Igor, GARROW, Timothy, JAMES, S. Jill, ROZEN, Rima

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Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association? von Lucaccioni, Laura, Schwahn, Bernd C, Donaldson, Malcolm, Giacomozzi, Claudio

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Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia von Schwahn, Bernd C., Pieterse, Louisa, Bisset, W. Michael, Galloway, Peter G., Robinson, Peter H.

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Expanded newborn screening identifies maternal primary carnitine deficiency von Schimmenti, Lisa A., Crombez, Eric A., Schwahn, Bernd C., Heese, Bryce A., Wood, Timothy C., Schroer, Richard J., Bentler, Kristi, Cederbaum, Stephen, Sarafoglou, Kiki, McCann, Mark, Rinaldo, Piero, Matern, Dietrich, di San Filippo, Cristina Amat, Pasquali, Marzia, Berry, Susan A., Longo, Nicola

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Homocysteine‐betaine interactions in a murine model of 5,10‐methylenetetrahydrofolate reductase deficiency von Schwahn, Bernd C., Chen, Zhoutao, Laryea, Maurice D., Wendel, Udo, Lussier‐Cacan, Suzanne, Genest, Jacques, Mar, Mei‐Heng, Zeisel, Steven H., Castro, Carmen, Garrow, Timothy, Rozen, Rima

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Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria von Schwahn, Bernd C., Hafner, Dieter, Hohlfeld, Thomas, Balkenhol, Nina, Laryea, Maurice D., Wendel, Udo

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Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency von Schwahn, Bernd C, Laryea, Maurice D, Chen, Zhoutao, Melnyk, Stepan, Pogribny, Igor, Garrow, Timothy, James, S Jill, Rozen, Rima

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Timing of Cerebral Developmental Disruption in Molybdenum Cofactor Deficiency von Veldman, Alex, Hennermann, Julia B., Schwarz, Guenter, van Spronsen, Francjan, Weis, Ilona, Wong, Flora Y., Schwahn, Bernd C.

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