These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

136 related articles for article (PubMed ID: 9415683)

  • 21. 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]  

  • 22. Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions.
    Slot HM; Overweg-Plandsoen WC; Bakker HD; Abeling NG; Tamminga P; Barth PG; Van Gennip AH
    Neuropediatrics; 1993 Jun; 24(3):139-42. PubMed ID: 8355818
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Combined sulfite and xanthine oxidase deficiency due to an anomaly in the metabolism of molybdenum cofactor].
    Lagier P; Tessonnier JM; Collet S; Lando A; Divry P; Vianet-Liaud C; Desjacques P; Bimar J
    Ann Pediatr (Paris); 1986 Nov; 33(9):825-8. PubMed ID: 3800248
    [No Abstract]   [Full Text] [Related]  

  • 24. Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.
    Ichida K; Amaya Y; Kamatani N; Nishino T; Hosoya T; Sakai O
    J Clin Invest; 1997 May; 99(10):2391-7. PubMed ID: 9153281
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry.
    Kishikawa M; Sass JO; Sakura N; Nakanishi T; Shimizu A; Yoshioka M
    Biochim Biophys Acta; 2002 Nov; 1588(2):135-8. PubMed ID: 12385777
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.
    Gümüş H; Ghesquiere S; Per H; Kondolot M; Ichida K; Poyrazoğlu G; Kumandaş S; Engelen J; Dundar M; Cağlayan AO
    Dev Med Child Neurol; 2010 Sep; 52(9):868-72. PubMed ID: 20573177
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Combined xanthine and sulphite oxidase defect due to a deficiency of molybdenum cofactor.
    Roesel RA; Bowyer F; Blankenship PR; Hommes FA
    J Inherit Metab Dis; 1986; 9(4):343-7. PubMed ID: 3104671
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Molybdenum cofactor deficiency: clinical features in a Turkish patient.
    Per H; Gümüş H; Ichida K; Cağlayan O; Kumandaş S
    Brain Dev; 2007 Jul; 29(6):365-8. PubMed ID: 17158010
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.
    Mayr SJ; Sass JO; Vry J; Kirschner J; Mader I; Hövener JB; Reiss J; Santamaria-Araujo JA; Schwarz G; Grünert SC
    J Inherit Metab Dis; 2018 Mar; 41(2):187-196. PubMed ID: 29368224
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Molybdenum cofactor deficiency: A natural history.
    Spiegel R; Schwahn BC; Squires L; Confer N
    J Inherit Metab Dis; 2022 May; 45(3):456-469. PubMed ID: 35192225
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
    Schwahn BC; van Spronsen F; Misko A; Pavaine J; Holmes V; Spiegel R; Schwarz G; Wong F; Horman A; Pitt J; Sass JO; Lubout C
    J Inherit Metab Dis; 2024 Jul; 47(4):598-623. PubMed ID: 38627985
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.
    Shalata A; Mandel H; Reiss J; Szargel R; Cohen-Akenine A; Dorche C; Zabot MT; Van Gennip A; Abeling N; Berant M; Cohen N
    Am J Hum Genet; 1998 Jul; 63(1):148-54. PubMed ID: 9634514
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor.
    Bonioli E; DiStefano A; Palmieri A; Bertola A; Bellini C; Caruso U; Fantasia AR; Minniti G; Dorche C
    J Inherit Metab Dis; 1996; 19(5):700-1. PubMed ID: 8892030
    [No Abstract]   [Full Text] [Related]  

  • 34. Molybdenum cofactor deficiency.
    Arnold GL; Greene CL; Stout JP; Goodman SI
    J Pediatr; 1993 Oct; 123(4):595-8. PubMed ID: 8410516
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.
    Scelsa B; Gasperini S; Righini A; Iascone M; Brazzoduro VG; Veggiotti P
    Mol Genet Genomic Med; 2019 Jun; 7(6):e657. PubMed ID: 30900395
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.
    Jakubiczka-Smorag J; Santamaria-Araujo JA; Metz I; Kumar A; Hakroush S; Brueck W; Schwarz G; Burfeind P; Reiss J; Smorag L
    Hum Genet; 2016 Jul; 135(7):813-26. PubMed ID: 27138983
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Molybdenum cofactor biosynthesis and molybdenum enzymes.
    Schwarz G; Mendel RR
    Annu Rev Plant Biol; 2006; 57():623-47. PubMed ID: 16669776
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency.
    Endres W; Shin YS; Günther R; Ibel H; Duran M; Wadman SK
    Eur J Pediatr; 1988 Dec; 148(3):246-9. PubMed ID: 3215199
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Molybdenum cofactor-deficient mice resemble the phenotype of human patients.
    Lee HJ; Adham IM; Schwarz G; Kneussel M; Sass JO; Engel W; Reiss J
    Hum Mol Genet; 2002 Dec; 11(26):3309-17. PubMed ID: 12471057
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
    Reiss J; Johnson JL
    Hum Mutat; 2003 Jun; 21(6):569-76. PubMed ID: 12754701
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.