205 related articles for article (PubMed ID: 35192225)
1. 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]
2. 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]
3. 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]
4. 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. PubMed ID: 20385644
[TBL] [Abstract][Full Text] [Related]
5. Molybdenum cofactor deficiency.
Atwal PS; Scaglia F
Mol Genet Metab; 2016 Jan; 117(1):1-4. PubMed ID: 26653176
[TBL] [Abstract][Full Text] [Related]
6. [Molybdenum cofactor deficiency type B manifested as Leigh-like syndrome: a case report and literature review].
Tian XJ; Li X; Fang F; Liu ZM; Wu WJ; Liu K; Sun SZ
Zhonghua Er Ke Za Zhi; 2021 Feb; 59(2):119-124. PubMed ID: 33548958
[No Abstract] [Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Molybdenum cofactor deficiency: review of 12 cases (MoCD and review).
Bayram E; Topcu Y; Karakaya P; Yis U; Cakmakci H; Ichida K; Kurul SH
Eur J Paediatr Neurol; 2013 Jan; 17(1):1-6. PubMed ID: 23122324
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Molybdenum Cofactor Deficiency in Humans.
Johannes L; Fu CY; Schwarz G
Molecules; 2022 Oct; 27(20):. PubMed ID: 36296488
[TBL] [Abstract][Full Text] [Related]
13. New Neuroimaging Findings in Patients with Molybdenum Cofactor Deficiency Type A: A Case Report and Literature Review.
Liu H; Yu X; He S; Li S
Curr Med Imaging; 2024; 20():1-7. PubMed ID: 38389347
[TBL] [Abstract][Full Text] [Related]
14. [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. PubMed ID: 26775885
[TBL] [Abstract][Full Text] [Related]
15. Molybdenum cofactor deficiency: metabolic link between taurine and S-sulfocysteine.
Belaidi AA; Schwarz G
Adv Exp Med Biol; 2013; 776():13-9. PubMed ID: 23392866
[TBL] [Abstract][Full Text] [Related]
16. The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with
Abe Y; Aihara Y; Endo W; Hasegawa H; Ichida K; Uematsu M; Kure S
Mol Genet Metab Rep; 2021 Mar; 26():100716. PubMed ID: 33552910
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency].
Sumi S; Wada Y
Nihon Rinsho; 1996 Dec; 54(12):3333-6. PubMed ID: 8976115
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]