Neonatal molybdenum cofactor deficiency and ectopia lentis in a Saudi Arabian patient
Molybdenum cofactor deficiency (MCD) is a rare and ultimately fatal metabolic dis-ease that results in extensive neurodegeneration in early infancy. The causal association of MCD with sulfite oxidase deficiency, a known cause of subluxed lenses (ectopia lentis), has only been recently defined. We re...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Wolters Kluwer Medknow Publications
2014-07-01
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| Schriftenreihe: | International Journal of Pediatrics & Adolescent Medicine |
| Schlagworte: | |
| Online-Zugang: | https://journals.lww.com/10.1016/j.ijpam.2014.09.005 |
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