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Items: 3

1.
Prenatal brain disruption in isolated sulfite oxidase deficiency
Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen, I-Chun Lee
Orphanet J Rare Dis. 2017; 12: 115. Published online 2017 Jun 19. doi: 10.1186/s13023-017-0668-3
PMCID:
PMC5477159
AbstractArticlePDF–1.1M
2.
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients
Maha S. Zaki, Laila Selim, Hala T. EL-Bassyouni, Mahmoud Y. Issa, Iman Mahmoud, Samira Ismail, Mariane Girgis, Abdelrahim A. Sadek, Joseph G. Gleeson, Mohamed S. Abdel Hamid
Eur J Paediatr Neurol. Author manuscript; available in PMC 2016 Sep 1.
Published in final edited form as: Eur J Paediatr Neurol. 2016 Sep; 20(5): 714–722. Published online 2016 May 30. doi: 10.1016/j.ejpn.2016.05.011
PMCID:
PMC4993451
AbstractArticlePDF–1.7M
3.
Human sulfite oxidase R160Q: Identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme
Robert M. Garrett, Jean L. Johnson, Tyler N. Graf, Annette Feigenbaum, K. V. Rajagopalan
Proc Natl Acad Sci U S A. 1998 May 26; 95(11): 6394–6398. doi: 10.1073/pnas.95.11.6394
PMCID:
PMC27738
AbstractArticlePDF–223K

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