144 related articles for article (PubMed ID: 38367485)
1. Molybdenum Cofactor Deficiency in the Neonate: Expanding the Phenotype.
Hierro F; Tomé ML; Grenha J; Santos H; Santos F; Nunes J
Pediatr Neurol; 2024 Apr; 153():113-115. PubMed ID: 38367485
[No Abstract] [Full Text] [Related]
2. 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]
3. A GPHN point mutation leading to molybdenum cofactor deficiency.
Reiss J; Lenz U; Aquaviva-Bourdain C; Joriot-Chekaf S; Mention-Mulliez K; Holder-Espinasse M
Clin Genet; 2011 Dec; 80(6):598-9. PubMed ID: 22040219
[No Abstract] [Full Text] [Related]
4. [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]
5. Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B.
Lee EJ; Dandamudi R; Granadillo JL; Grange DK; Kakajiwala A
CEN Case Rep; 2021 Aug; 10(3):378-382. PubMed ID: 33502714
[TBL] [Abstract][Full Text] [Related]
6. Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for diagnosis.
Kikuchi K; Hamano S; Mochizuki H; Ichida K; Ida H
Pediatr Neurol; 2012 Aug; 47(2):147-9. PubMed ID: 22759696
[TBL] [Abstract][Full Text] [Related]
7. Child Neurology: Molybdenum cofactor deficiency.
Nagappa M; Bindu PS; Taly AB; Sinha S; Bharath RD
Neurology; 2015 Dec; 85(23):e175-8. PubMed ID: 26644055
[No Abstract] [Full Text] [Related]
8. Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay.
Lund AM; Berland S; Tangeraas T; Christensen M; Confer N; Squires L; Brannsether B
Pediatrics; 2024 Jun; 153(6):. PubMed ID: 38808412
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic.
Brucknerova I; Behulova D; Bzduch V; Mach M; Dubovicky M; Ujhazy E
Neuro Endocrinol Lett; 2010; 31 Suppl 2():5-7. PubMed ID: 21187823
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. [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]
14. 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]
15. Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
Struys EA; Nota B; Bakkali A; Al Shahwan S; Salomons GS; Tabarki B
Pediatrics; 2012 Dec; 130(6):e1716-9. PubMed ID: 23147983
[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. 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]
18. Afebrile seizures in infants: Never forget magnesium!
Minute M; Ventura G; Giorgi R; Faletra F; Costa P; Cozzi G
J Paediatr Child Health; 2018 Apr; 54(4):446-448. PubMed ID: 29411453
[No Abstract] [Full Text] [Related]
19. Microelements and inherited metabolic diseases.
Marklová E
Acta Medica (Hradec Kralove); 2002; 45(4):129-33. PubMed ID: 12587779
[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]