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Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene |
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| Authors: | Jan G. M. Huijmans Rachel Schot Johannis B. C. de Klerk Monique Williams René F. M. de Coo Marinus Duran Frans W. Verheijen Marjon van Slegtenhorst Grazia M. S. Mancini |
| Affiliation: | 1. Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands;2. Department of Pediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands;3. Department of Child Neurology, Erasmus MC Sophia, Rotterdam, The Netherlands;4. Department of Metabolic diseases, Amsterdam Medical Center, Amsterdam, The Netherlands |
| Abstract: | |
| Keywords: | MOCS3 deficiency Marfan‐like habitus sulfocysteine xanthine |