202 related articles for article (PubMed ID: 33897766)
1. Case Report: Compound Heterozygous Variants in
Tian Q; Cao Y; Shu L; Chen Y; Peng Y; Wang Y; Chen Y; Wang H; Mao X
Front Genet; 2021; 12():651878. PubMed ID: 33897766
[No Abstract] [Full Text] [Related]
2. Molybdenum Cofactor Deficiency in Humans.
Johannes L; Fu CY; Schwarz G
Molecules; 2022 Oct; 27(20):. PubMed ID: 36296488
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.
Huijmans JGM; Schot R; de Klerk JBC; Williams M; de Coo RFM; Duran M; Verheijen FW; van Slegtenhorst M; Mancini GMS
Am J Med Genet A; 2017 Jun; 173(6):1601-1606. PubMed ID: 28544736
[TBL] [Abstract][Full Text] [Related]
5. A neonate with molybdenum cofactor deficiency type B.
Lin Y; Liu Y; Chen S; Zhu J; Huang Y; Lin Z; Chen S
Transl Pediatr; 2021 Apr; 10(4):1039-1044. PubMed ID: 34012852
[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. 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]
8. 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]
9. 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]
10. Analysis of the Cellular Roles of MOCS3 Identifies a MOCS3-Independent Localization of NFS1 at the Tips of the Centrosome.
Neukranz Y; Kotter A; Beilschmidt L; Marelja Z; Helm M; Gräf R; Leimkühler S
Biochemistry; 2019 Apr; 58(13):1786-1798. PubMed ID: 30817134
[TBL] [Abstract][Full Text] [Related]
11. Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby.
Edwards M; Roeper J; Allgood C; Chin R; Santamaria J; Wong F; Schwarz G; Whitehall J
Meta Gene; 2015 Feb; 3():43-9. PubMed ID: 25709896
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Molybdenum cofactor deficiency causes translucent integument, male-biased lethality, and flaccid paralysis in the silkworm Bombyx mori.
Fujii T; Yamamoto K; Banno Y
Insect Biochem Mol Biol; 2016 Jun; 73():20-6. PubMed ID: 27041280
[TBL] [Abstract][Full Text] [Related]
15. A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency.
Reiss J; Gross-Hardt S; Christensen E; Schmidt P; Mendel RR; Schwarz G
Am J Hum Genet; 2001 Jan; 68(1):208-13. PubMed ID: 11095995
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis.
Marelja Z; Stöcklein W; Nimtz M; Leimkühler S
J Biol Chem; 2008 Sep; 283(37):25178-25185. PubMed ID: 18650437
[TBL] [Abstract][Full Text] [Related]
19. Metabolism of molybdenum.
Mendel RR
Met Ions Life Sci; 2013; 12():503-28. PubMed ID: 23595682
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
