152 related articles for article (PubMed ID: 31870341)
1. Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review.
Tian M; Qu Y; Huang L; Su X; Li S; Ying J; Zhao F; Mu D
BMC Pediatr; 2019 Dec; 19(1):510. PubMed ID: 31870341
[TBL] [Abstract][Full Text] [Related]
2. Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree.
Du P; Hassan RN; Luo H; Xie J; Zhu Y; Hu Q; Yan J; Jiang W
Mol Genet Genomic Med; 2021 Feb; 9(2):e1590. PubMed ID: 33405344
[TBL] [Abstract][Full Text] [Related]
3. Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients.
Sharawat IK; Saini L; Singanamala B; Saini AG; Sahu JK; Attri SV; Sankhyan N
Brain Dev; 2020 Feb; 42(2):157-164. PubMed ID: 31806255
[TBL] [Abstract][Full Text] [Related]
4. Prenatal brain disruption in isolated sulfite oxidase deficiency.
Lee HF; Chi CS; Tsai CR; Chen HC; Lee IC
Orphanet J Rare Dis; 2017 Jun; 12(1):115. PubMed ID: 28629418
[TBL] [Abstract][Full Text] [Related]
5. Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.
Bender D; Kaczmarek AT; Santamaria-Araujo JA; Stueve B; Waltz S; Bartsch D; Kurian L; Cirak S; Schwarz G
Hum Mol Genet; 2019 Sep; 28(17):2885-2899. PubMed ID: 31127934
[TBL] [Abstract][Full Text] [Related]
6. Isolated sulfite oxidase deficiency.
Claerhout H; Witters P; Régal L; Jansen K; Van Hoestenberghe MR; Breckpot J; Vermeersch P
J Inherit Metab Dis; 2018 Jan; 41(1):101-108. PubMed ID: 28980090
[TBL] [Abstract][Full Text] [Related]
7. Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency.
Zhang R; Hao Y; Xu Y; Qin J; Wang Y; Kumar Dey S; Li C; Wang H; Banerjee S
Clin Chim Acta; 2022 Jul; 532():115-122. PubMed ID: 35679912
[TBL] [Abstract][Full Text] [Related]
8. Severe isolated sulfide oxidase deficiency with a novel mutation.
Ergene M; Yarar N; Öncel EP; Sezer T; Çavdarlı B; Ecevit İZ; Aydın Hİ
Turk J Pediatr; 2021; 63(4):716-720. PubMed ID: 34449156
[TBL] [Abstract][Full Text] [Related]
9. Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.
Holder JL; Agadi S; Reese W; Rehder C; Quach MM
JAMA Neurol; 2014 Jun; 71(6):782-4. PubMed ID: 24756183
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 24384336
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 16140720
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 23414711
[TBL] [Abstract][Full Text] [Related]
13. A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.
Kaczmarek AT; Bender D; Gehling T; Kohl JB; Daimagüler HS; Santamaria-Araujo JA; Liebau MC; Koy A; Cirak S; Schwarz G
J Inherit Metab Dis; 2022 Mar; 45(2):169-182. PubMed ID: 34741542
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 23452914
[TBL] [Abstract][Full Text] [Related]
15. Oxygen and nitrite reduction by heme-deficient sulphite oxidase in a patient with mild sulphite oxidase deficiency.
Bender D; Kaczmarek AT; Kuester S; Burlina AB; Schwarz G
J Inherit Metab Dis; 2020 Jul; 43(4):748-757. PubMed ID: 31950508
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 19793632
[TBL] [Abstract][Full Text] [Related]
17. [Analysis of SUOX gene variants and clinical features in a child with Isolated sulfite oxidase deficiency].
Wang Y; Lan X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Feb; 40(2):177-180. PubMed ID: 36709936
[TBL] [Abstract][Full Text] [Related]
18. Isolated sulfite oxidase deficiency: a founder mutation.
Mhanni AA; Greenberg CR; Spriggs EL; Agatep R; Sisk RR; Prasad C
Cold Spring Harb Mol Case Stud; 2020 Dec; 6(6):. PubMed ID: 33335014
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 16025295
[TBL] [Abstract][Full Text] [Related]
20. Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.
Zaki MS; Selim L; El-Bassyouni HT; Issa MY; Mahmoud I; Ismail S; Girgis M; Sadek AA; Gleeson JG; Abdel Hamid MS
Eur J Paediatr Neurol; 2016 Sep; 20(5):714-22. PubMed ID: 27289259
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]