TY - JOUR AU - Irreverre, F. AU - Mudd, S. H. AU - Heizer, W. D. AU - Laster, L. PY - 1967 DA - 1967// TI - Sulfite oxidase deficiency: studies of a patient with mental retardation, dislocated ocular lenses, and abnormal urinary excretion of S-sulfo-l-cysteine, sulfite, and thiosulfate JO - Biochem Med VL - 1 UR - https://doi.org/10.1016/0006-2944(67)90007-5 DO - 10.1016/0006-2944(67)90007-5 ID - Irreverre1967 ER - TY - JOUR AU - Claerhout, H. AU - Witters, P. AU - Regal, L. AU - Jansen, K. AU - Hoestenberghe, M. R. AU - Breckpot, J. PY - 2018 DA - 2018// TI - Vermeersch, P. isolated sulfite oxidase deficiency JO - J Inherit Metab Dis VL - 41 UR - https://doi.org/10.1007/s10545-017-0089-4 DO - 10.1007/s10545-017-0089-4 ID - Claerhout2018 ER - TY - JOUR AU - Kisker, C. AU - Schindelin, H. AU - Pacheco, A. AU - Wehbi, W. A. AU - Garrett, R. M. AU - Rajagopalan, K. V. PY - 1997 DA - 1997// TI - Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase JO - Cell VL - 91 UR - https://doi.org/10.1016/S0092-8674(00)80488-2 DO - 10.1016/S0092-8674(00)80488-2 ID - Kisker1997 ER - TY - JOUR AU - Rupar, C. A. AU - Gillett, J. AU - Gordon, B. A. AU - Ramsay, D. A. AU - Johnson, J. L. AU - Garrett, R. M. PY - 1996 DA - 1996// TI - Isolated sulfite oxidase deficiency JO - Neuropediatrics VL - 27 UR - https://doi.org/10.1055/s-2007-973798 DO - 10.1055/s-2007-973798 ID - Rupar1996 ER - TY - JOUR AU - Garrett, R. M. AU - Johnson, J. L. AU - Graf, T. N. AU - Feigenbaum, A. AU - Rajagopalan, K. V. PY - 1998 DA - 1998// TI - Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme JO - Proc Natl Acad Sci U S A VL - 95 UR - https://doi.org/10.1073/pnas.95.11.6394 DO - 10.1073/pnas.95.11.6394 ID - Garrett1998 ER - TY - JOUR AU - Tan, W. H. AU - Eichler, F. S. AU - Hoda, S. AU - Lee, M. S. AU - Baris, H. AU - Hanley, C. A. PY - 2005 DA - 2005// TI - Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature JO - Pediatrics VL - 116 UR - https://doi.org/10.1542/peds.2004-1897 DO - 10.1542/peds.2004-1897 ID - Tan2005 ER - TY - JOUR AU - Shih, V. E. AU - Abroms, I. F. AU - Johnson, J. L. AU - Carney, M. AU - Mandell, R. AU - Robb, R. M. PY - 1977 DA - 1977// TI - Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism JO - N Engl J Med VL - 297 UR - https://doi.org/10.1056/NEJM197711102971902 DO - 10.1056/NEJM197711102971902 ID - Shih1977 ER - TY - JOUR AU - Barbot, C. AU - Martins, E. AU - Vilarinho, L. AU - Dorche, C. AU - Cardoso, M. L. PY - 1995 DA - 1995// TI - A mild form of infantile isolated sulphite oxidase deficiency JO - Neuropediatrics VL - 26 UR - https://doi.org/10.1055/s-2007-979783 DO - 10.1055/s-2007-979783 ID - Barbot1995 ER - TY - JOUR AU - Touati, G. AU - Rusthoven, E. AU - Depondt, E. AU - Dorche, C. AU - Duran, M. AU - Heron, B. PY - 2000 DA - 2000// TI - Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement JO - J Inherit Metab Dis VL - 23 UR - https://doi.org/10.1023/A:1005646813492 DO - 10.1023/A:1005646813492 ID - Touati2000 ER - TY - JOUR AU - Del, R. M. AU - Burlina, A. P. AU - Sass, J. O. AU - Beermann, F. AU - Zanco, C. AU - Cazzorla, C. PY - 2013 DA - 2013// TI - Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiciency JO - Mol Genet Metab VL - 108 UR - https://doi.org/10.1016/j.ymgme.2013.01.011 DO - 10.1016/j.ymgme.2013.01.011 ID - Del2013 ER - TY - JOUR AU - Rocha, S. AU - Ferreira, A. C. AU - Dias, A. I. AU - Vieira, J. P. AU - Sequeira, S. PY - 2014 DA - 2014// TI - Sulfite oxidase deficiency-an unusual late and mild presentation JO - Brain and Development VL - 36 UR - https://doi.org/10.1016/j.braindev. 2013.01.013 DO - 10.1016/j.braindev. 2013.01.013 ID - Rocha2014 ER - TY - JOUR AU - Richards, S. AU - Aziz, N. AU - Bale, S. AU - Bick, D. AU - Das, S. AU - Gastier-Foster, J. PY - 2015 DA - 2015// TI - Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology JO - Genet Med VL - 17 UR - https://doi.org/10.1038/gim.2015.30 DO - 10.1038/gim.2015.30 ID - Richards2015 ER - TY - JOUR AU - Klei-van, M. J. M. AU - Smit, L. M. AU - Brockstedt, M. AU - Jakobs, C. AU - Dorche, C. PY - 1991 DA - 1991// TI - Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion JO - Eur J Pediatr VL - 150 UR - https://doi.org/10.1007/BF01963565 DO - 10.1007/BF01963565 ID - Klei-van1991 ER - TY - JOUR AU - Hoffmann, C. AU - Ben-Zeev, B. AU - Anikster, Y. AU - Nissenkorn, A. AU - Brand, N. AU - Kuint, J. PY - 2007 DA - 2007// TI - Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency JO - J Child Neurol VL - 22 UR - https://doi.org/10.1177/0883073807306260 DO - 10.1177/0883073807306260 ID - Hoffmann2007 ER - TY - JOUR AU - Bosley, T. M. AU - Alorainy, I. A. AU - Oystreck, D. T. AU - Hellani, A. M. AU - Seidahmed, M. Z. AU - Osman Mel, F. PY - 2014 DA - 2014// TI - Neurologic injury in isolated sulfite oxidase deficiency JO - Can J Neurol Sci VL - 41 UR - https://doi.org/10.1017/S0317167100016243 DO - 10.1017/S0317167100016243 ID - Bosley2014 ER -