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Preimplantation Genetic Diagnosis in Isolated Sulfite Oxidase Deficiency

Published online by Cambridge University Press:  23 September 2014

Mustafa A. Salih ,
Thomas M. Bosley ,
Ibrahim A. Alorainy ,
Mohamed A. Sabry ,
Mohamed S. Rashed ,
Eiman A. Al-Yamani ,
Siham El-Akoum ,
Sarar H. Mohamed ,
Khaled K. Abu-Amero  and
Ali M. Hellani
Mustafa A. Salih
Affiliation:
Pediatric (Neurology), College of Medicine, King Saud University
Thomas M. Bosley
Affiliation:
Pediatric Ophthalmology, College of Medicine, King Saud University
Ibrahim A. Alorainy
Affiliation:
Radiology Departments, College of Medicine, King Saud University
Mohamed A. Sabry
Affiliation:
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh
Mohamed S. Rashed
Affiliation:
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh
Eiman A. Al-Yamani
Affiliation:
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh
Siham El-Akoum
Affiliation:
Department of Women's Health, Saad Specialist Hospital, Al-Khobar, Saudi Arabia
Sarar H. Mohamed
Affiliation:
Department of Pediatrics, Saad Specialist Hospital, Al-Khobar, Saudi Arabia
Khaled K. Abu-Amero*
Affiliation:
Pediatric Ophthalmology, College of Medicine, King Saud University
Ali M. Hellani
Affiliation:
Department of PGD Laboratory, Saad Specialist Hospital, Al-Khobar, Saudi Arabia
*
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia, Email: abuamero@gmail.com
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Abstract

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Type
Brief Communications
Information
Canadian Journal of Neurological Sciences , Volume 40 , Issue 1 , January 2013 , pp. 109 - 112
Copyright
Copyright © The Canadian Journal of Neurological 2013

References

1. Sass, JO, Gunduz, A, Araujo Rodrigues Funayama, C, et al. Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia. Brain Dev. 2010 Aug;32(7):544–9.CrossRefGoogle ScholarPubMed
2. Seidahmed, MZ, Alyamani, EA, Rashed, MS, et al. Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency. Am J Med Genet A. 2005 Jul 15;136(2):205–9.Google Scholar
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4. Rashed, MS, Saadallah, AA, Rahbeeni, Z, et al. Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry. Biomed Chromatogr. 2005 Apr;19(3):223–30.CrossRefGoogle ScholarPubMed
5. Touati, G, Rusthoven, E, Depondt, E, et al. Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement. J Inherit Metab Dis. 2000 Feb;23(1):45–53.Google Scholar