137 related articles for article (PubMed ID: 38808412)
21. Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency.
Sie SD; de Jonge RC; Blom HJ; Mulder MF; Reiss J; Vermeulen RJ; Peeters-Scholte CM
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3(Suppl 3):S401-7. PubMed ID: 20865336
[TBL] [Abstract][Full Text] [Related]
22. Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.
Schwahn BC; Van Spronsen FJ; Belaidi AA; Bowhay S; Christodoulou J; Derks TG; Hennermann JB; Jameson E; König K; McGregor TL; Font-Montgomery E; Santamaria-Araujo JA; Santra S; Vaidya M; Vierzig A; Wassmer E; Weis I; Wong FY; Veldman A; Schwarz G
Lancet; 2015 Nov; 386(10007):1955-1963. PubMed ID: 26343839
[TBL] [Abstract][Full Text] [Related]
23. Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
Reiss J; Hahnewald R
Hum Mutat; 2011 Jan; 32(1):10-8. PubMed ID: 21031595
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.
Kingsmore SF; Ramchandar N; James K; Niemi AK; Feigenbaum A; Ding Y; Benson W; Hobbs C; Nahas S; Chowdhury S; Dimmock D
Cold Spring Harb Mol Case Stud; 2020 Feb; 6(1):. PubMed ID: 32014857
[TBL] [Abstract][Full Text] [Related]
26. [Molybdenum cofactor deficiency].
Matsuishi T; Ishibashi S; Nakashima M; Satoi M
Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):185-8. PubMed ID: 9645039
[No Abstract] [Full Text] [Related]
27. Teaching NeuroImage: A 2-Year-Old Girl With Molybdenum Cofactor Deficiency.
Duan J
Neurology; 2024 Apr; 102(8):e209317. PubMed ID: 38527248
[No Abstract] [Full Text] [Related]
28. Regulatory news: Nulibry (fosdenopterin) approved to reduce the risk of mortality in patients with molybdenum cofactor deficiency type A: FDA approval summary.
Farrell S; Karp J; Hager R; Wang Y; Adeniyi O; Wang J; Li L; Ma L; Peretz J; Summan M; Kong N; White M; Pacanowski M; Price D; Filie J; Donohue K; Joffe H
J Inherit Metab Dis; 2021 Sep; 44(5):1085-1087. PubMed ID: 34337775
[No Abstract] [Full Text] [Related]
29. 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]
30. Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency.
Stence NV; Coughlin CR; Fenton LZ; Thomas JA
Pediatr Radiol; 2013 Jul; 43(7):882-5. PubMed ID: 23250031
[TBL] [Abstract][Full Text] [Related]
31. Short-term response to dietary therapy in molybdenum cofactor deficiency.
Boles RG; Ment LR; Meyn MS; Horwich AL; Kratz LE; Rinaldo P
Ann Neurol; 1993 Nov; 34(5):742-4. PubMed ID: 7694543
[TBL] [Abstract][Full Text] [Related]
32. Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?
Thompson MD; Killoran A; Percy ME; Nezarati M; Cole DE; Hwang PA
Pediatr Neurol; 2006 Apr; 34(4):303-7. PubMed ID: 16638507
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Molybdenum cofactor deficiency.
Atwal PS; Scaglia F
Mol Genet Metab; 2016 Jan; 117(1):1-4. PubMed ID: 26653176
[TBL] [Abstract][Full Text] [Related]
35. Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes: Correspondence.
Finsterer J
Indian J Pediatr; 2024 Jul; 91(7):756. PubMed ID: 38240982
[No Abstract] [Full Text] [Related]
36. 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]
37. Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy.
Yoganathan S; Sudhakar S; Thomas M; Kumar Dutta A; Danda S; Chandran M
Iran J Child Neurol; 2018; 12(2):107-112. PubMed ID: 29696052
[TBL] [Abstract][Full Text] [Related]
38. Critical appraisal of genotype assessment in molybdenum cofactor deficiency.
Hinderhofer K; Mechler K; Hoffmann GF; Lampert A; Mountford WK; Ries M
J Inherit Metab Dis; 2017 Nov; 40(6):801-811. PubMed ID: 28900816
[TBL] [Abstract][Full Text] [Related]
39. The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations.
Arican P; Gencpinar P; Kirbiyik O; Bozkaya Yilmaz S; Ersen A; Oztekin O; Olgac Dundar N
Pediatr Neurol; 2019 Oct; 99():55-59. PubMed ID: 31201073
[TBL] [Abstract][Full Text] [Related]
40. Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
Mills PB; Footitt EJ; Ceyhan S; Waters PJ; Jakobs C; Clayton PT; Struys EA
J Inherit Metab Dis; 2012 Nov; 35(6):1031-6. PubMed ID: 22403017
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]