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Items: 1 to 20 of 87

1.

Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency.

Del Rizzo M, Burlina AP, Sass JO, Beermann F, Zanco C, Cazzorla C, Bordugo A, Giordano L, Manara R, Burlina AB.

Mol Genet Metab. 2013 Apr;108(4):263-6. doi: 10.1016/j.ymgme.2013.01.011. Epub 2013 Jan 27.

PMID:
23414711
2.

Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.

Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE.

Pediatrics. 2005 Sep;116(3):757-66. Review. Erratum in: Pediatrics. 2005 Dec;116(6):1615.

PMID:
16140720
3.

Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency.

Eichler F, Tan WH, Shih VE, Grant PE, Krishnamoorthy K.

J Child Neurol. 2006 Sep;21(9):801-5.

PMID:
16970890
4.

Neurologic injury in isolated sulfite oxidase deficiency.

Bosley TM, Alorainy IA, Oystreck DT, Hellani AM, Seidahmed MZ, Osman Mel F, Sabry MA, Rashed MS, Al-Yamani EA, Abu-Amero KK, Salih MA.

Can J Neurol Sci. 2014 Jan;41(1):42-8.

PMID:
24384336
5.

Sulfite oxidase deficiency in a newborn.

Westerlinck H, Meylaerts L, Van Hoestenberghe MR, Rossi A.

JBR-BTR. 2014 Mar-Apr;97(2):113-4.

PMID:
25073245
6.

Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy.

Hobson EE, Thomas S, Crofton PM, Murray AD, Dean JC, Lloyd D.

Eur J Pediatr. 2005 Nov;164(11):655-9. Epub 2005 Jul 16.

PMID:
16025295
7.

Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.

Holder JL Jr, Agadi S, Reese W, Rehder C, Quach MM.

JAMA Neurol. 2014 Jun;71(6):782-4. doi: 10.1001/jamaneurol.2013.5083.

PMID:
24756183
8.

Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.

Sass JO, Gunduz A, Araujo Rodrigues Funayama C, Korkmaz B, Dantas Pinto KG, Tuysuz B, Yanasse Dos Santos L, Taskiran E, de Fátima Turcato M, Lam CW, Reiss J, Walter M, Yalcinkaya C, Camelo Junior JS.

Brain Dev. 2010 Aug;32(7):544-9. doi: 10.1016/j.braindev.2009.09.005. Epub 2009 Sep 29.

PMID:
19793632
9.

⁹⁹mTc-ethyl cysteinate dimer cranial single-photon emission computed tomography and serial cranial magnetic resonance imaging in a girl with isolated sulfite oxidase deficiency.

Huang YL, Lin DS, Huang JK, Chiu NC, Ho CS.

Pediatr Neurol. 2012 Jul;47(1):44-6. doi: 10.1016/j.pediatrneurol.2012.03.012.

PMID:
22704016
10.

Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency.

Salih MA, Bosley TM, Alorainy IA, Sabry MA, Rashed MS, Al-Yamani EA, El-Akoum S, Mohamed SH, Abu-Amero KK, Hellani AM.

Can J Neurol Sci. 2013 Jan;40(1):109-12. No abstract available.

PMID:
23250141
11.

Clinical and imaging observations in isolated sulfite oxidase deficiency.

Bindu PS, Christopher R, Mahadevan A, Bharath RD.

J Child Neurol. 2011 Aug;26(8):1036-40. doi: 10.1177/0883073811401399. Epub 2011 May 13.

PMID:
21572056
12.

Sulfite oxidase deficiency--an unusual late and mild presentation.

Rocha S, Ferreira AC, Dias AI, Vieira JP, Sequeira S.

Brain Dev. 2014 Feb;36(2):176-9. doi: 10.1016/j.braindev.2013.01.013. Epub 2013 Feb 27.

PMID:
23452914
13.

Laboratory diagnosis of sulphite oxidase deficiency.

Sass JO.

Eur J Pediatr. 2006 Oct;165(10):739; author reply 740. Epub 2006 May 5. No abstract available.

PMID:
16676203
14.

Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion.

Chen LW, Tsai YS, Huang CC.

Pediatr Neurol. 2014 Jul;51(1):181-2. doi: 10.1016/j.pediatrneurol.2014.03.010. Epub 2014 Mar 22. No abstract available.

PMID:
24938149
15.

Disturbance of brain energy and redox homeostasis provoked by sulfite and thiosulfate: potential pathomechanisms involved in the neuropathology of sulfite oxidase deficiency.

Grings M, Moura AP, Parmeggiani B, Marcowich GF, Amaral AU, de Souza Wyse AT, Wajner M, Leipnitz G.

Gene. 2013 Dec 1;531(2):191-8. doi: 10.1016/j.gene.2013.09.018. Epub 2013 Sep 11.

PMID:
24035933
16.

Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency.

Hoffmann C, Ben-Zeev B, Anikster Y, Nissenkorn A, Brand N, Kuint J, Kushnir T.

J Child Neurol. 2007 Oct;22(10):1214-21.

PMID:
17940249
17.
18.

[Sulfite oxidase activity deficiency caused by cofactor molybdenum deficiency: A case of early severe encephalopathy].

Durousset C, Gay C, Magnin S, Acquaviva C, Patural H.

Arch Pediatr. 2016 Mar;23(3):292-6. doi: 10.1016/j.arcped.2015.12.005. Epub 2016 Jan 8. French.

PMID:
26775885
19.

Isolated sulfite oxidase deficiency: MR imaging features.

Dublin AB, Hald JK, Wootton-Gorges SL.

AJNR Am J Neuroradiol. 2002 Mar;23(3):484-5.

20.

Successful treatment of molybdenum cofactor deficiency type A with cPMP.

Veldman A, Santamaria-Araujo JA, Sollazzo S, Pitt J, Gianello R, Yaplito-Lee J, Wong F, Ramsden CA, Reiss J, Cook I, Fairweather J, Schwarz G.

Pediatrics. 2010 May;125(5):e1249-54. doi: 10.1542/peds.2009-2192. Epub 2010 Apr 12.

PMID:
20385644

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