BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

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]
    of 8.