| Successful treatment of molybdenum cofactor deficiency type A with cPMP A Veldman, JA Santamaria-Araujo, S Sollazzo, J Pitt, R Gianello, ... Pediatrics 125 (5), e1249-e1254, 2010 | 214 | 2010 |
| A Novel Role for Arabidopsis Mitochondrial ABC Transporter ATM3 in Molybdenum Cofactor Biosynthesis J Teschner, N Lachmann, J Schulze, M Geisler, K Selbach, ... The Plant Cell 22 (2), 468-480, 2010 | 153 | 2010 |
| Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study BC Schwahn, FJ Van Spronsen, AA Belaidi, S Bowhay, J Christodoulou, ... The Lancet 386 (10007), 1955-1963, 2015 | 140 | 2015 |
| Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli G Schwarz, JA Santamaria-Araujo, S Wolf, HJ Lee, IM Adham, HJ Gröne, ... Human molecular genetics 13 (12), 1249-1255, 2004 | 103 | 2004 |
| The tetrahydropyranopterin structure of the sulfur-free and metal-free molybdenum cofactor precursor JA Santamaria-Araujo, B Fischer, T Otte, M Nimtz, RR Mendel, V Wray, ... Journal of Biological Chemistry 279 (16), 15994-15999, 2004 | 102 | 2004 |
| S-sulfocysteine/NMDA receptor–dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency A Kumar, B Dejanovic, F Hetsch, M Semtner, D Fusca, S Arjune, ... The Journal of clinical investigation 127 (12), 4365-4378, 2017 | 70 | 2017 |
| Function of MoaB proteins in the biosynthesis of the molybdenum and tungsten cofactors LE Bevers, PL Hagedoorn, JA Santamaria-Araujo, A Magalon, WR Hagen, ... Biochemistry 47 (3), 949-956, 2008 | 62 | 2008 |
| Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP MM Hitzert, AF Bos, KA Bergman, A Veldman, G Schwarz, ... Pediatrics 130 (4), e1005-e1010, 2012 | 56 | 2012 |
| Synthesis of cyclic pyranopterin monophosphate, a biosynthetic intermediate in the molybdenum cofactor pathway K Clinch, DK Watt, RA Dixon, SM Baars, GJ Gainsford, A Tiwari, ... Journal of medicinal chemistry 56 (4), 1730-1738, 2013 | 37 | 2013 |
| Structure and stability of the molybdenum cofactor intermediate cyclic pyranopterin monophosphate JA Santamaria-Araujo, V Wray, G Schwarz JBIC Journal of Biological Inorganic Chemistry 17, 113-122, 2012 | 36 | 2012 |
| Molybdenum Cofactor Deficiency: A New HPLC Method for Fast Quantification of S-Sulfocysteine in Urine and Serum AA Belaidi, S Arjune, JA Santamaria-Araujo, JO Sass, G Schwarz JIMD Reports-Case and Research Reports, 2012/2, 35-43, 2012 | 31 | 2012 |
| Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency D Bender, AT Kaczmarek, JA Santamaria-Araujo, B Stueve, S Waltz, ... Human Molecular Genetics 28 (17), 2885-2899, 2019 | 25 | 2019 |
| A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation SJ Mayr, JO Sass, J Vry, J Kirschner, I Mader, JB Hövener, J Reiss, ... Journal of Inherited Metabolic Disease 41, 187-196, 2018 | 25 | 2018 |
| Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients J Jakubiczka-Smorag, JA Santamaria-Araujo, I Metz, A Kumar, ... Human genetics 135, 813-826, 2016 | 19 | 2016 |
| Molybdenum cofactor catabolism unravels the physiological role of the drug metabolizing enzyme thiopurine S‐methyltransferase J Pristup, E Schaeffeler, S Arjune, U Hofmann, ... Clinical Pharmacology & Therapeutics 112 (4), 808-816, 2022 | 9 | 2022 |
| A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency AT Kaczmarek, D Bender, T Gehling, JB Kohl, HS Daimagüler, ... Journal of Inherited Metabolic Disease 45 (2), 169-182, 2022 | 8 | 2022 |
| Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy A Macha, F Liebsch, S Fricke, F Hetsch, F Neuser, L Johannes, V Kress, ... Human Molecular Genetics 31 (6), 901-913, 2022 | 4 | 2022 |
| Efficacy and safety of cyclic pyranopterin monophosphate in the treatment of six newborn patients with molybdenum cofactor deficiency type A. A Veldman, P Galloway, F Van Spronson, K Bergman, B Schwahn, I Weis, ... Springer Netherlands, 2011 | 4 | 2011 |
| Follow-up of two infants with molybdenum cofactor deficiency (MOCD) group A, on long-term treatment with cyclic pyranopterin monophosphate (cPMP) BC Schwahn, PJ Galloway, S Bowhay, A Veldman, AA Belaidi, ... JOURNAL OF INHERITED METABOLIC DISEASE 34, S84-S84, 2011 | 3 | 2011 |
| Successful treatment of molybdenum cofactor deficiency type A with cyclic pyranopterin monophosphate (cPMP) in five patients A Veldman, B Schwahn, P Galloway, F van Spronsen, BK Weis, ... JOURNAL OF INHERITED METABOLIC DISEASE 33, S31-S31, 2010 | 1 | 2010 |
