112 related articles for article (PubMed ID: 22040219)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.
Johnson JL; Coyne KE; Garrett RM; Zabot MT; Dorche C; Kisker C; Rajagopalan KV
Hum Mutat; 2002 Jul; 20(1):74. PubMed ID: 12112661
[TBL] [Abstract][Full Text] [Related]
11. [Familial hypomagnesemia in a girl].
Pronicka E; Kowalewska-Kantecka B; Gruszczyńska B; Sliwińska J; Kraińska L
Pediatr Pol; 1980 Sep; 55(9):1083-6. PubMed ID: 7422421
[No Abstract] [Full Text] [Related]
12. 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]
13. The association of molybdenum cofactor deficiency and pyloric stenosis.
Tezel G; Oztekin O; Kalay S; Aslan A; Akçakuş M; Oygür N
J Perinatol; 2012 Nov; 32(11):896-8. PubMed ID: 23128059
[TBL] [Abstract][Full Text] [Related]
14. Early features in neuroimaging of two siblings with molybdenum cofactor deficiency.
Higuchi R; Sugimoto T; Tamura A; Kioka N; Tsuno Y; Higa A; Yoshikawa N
Pediatrics; 2014 Jan; 133(1):e267-71. PubMed ID: 24379235
[TBL] [Abstract][Full Text] [Related]
15. Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome.
Alkufri F; Harrower T; Rahman Y; Hughes E; Mundy H; Knibb JA; Moriarty J; Connor S; Samuel M
Mov Disord; 2013 Mar; 28(3):399-401. PubMed ID: 23436702
[No Abstract] [Full Text] [Related]
16. Microelements and inherited metabolic diseases.
Marklová E
Acta Medica (Hradec Kralove); 2002; 45(4):129-33. PubMed ID: 12587779
[TBL] [Abstract][Full Text] [Related]
17. Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
Torrents D; Mykkänen J; Pineda M; Feliubadaló L; Estévez R; de Cid R; Sanjurjo P; Zorzano A; Nunes V; Huoponen K; Reinikainen A; Simell O; Savontaus ML; Aula P; Palacín M
Nat Genet; 1999 Mar; 21(3):293-6. PubMed ID: 10080182
[TBL] [Abstract][Full Text] [Related]
18. Clinical neuroimaging features and outcome in molybdenum cofactor deficiency.
Vijayakumar K; Gunny R; Grunewald S; Carr L; Chong KW; DeVile C; Robinson R; McSweeney N; Prabhakar P
Pediatr Neurol; 2011 Oct; 45(4):246-52. PubMed ID: 21907887
[TBL] [Abstract][Full Text] [Related]
19. [Isolated sulfite oxidase deficiency].
Matsuishi T; Wada N; Isakai T; Togo A
Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):189-91. PubMed ID: 9645040
[No Abstract] [Full Text] [Related]
20. Congenital hypothyroidism caused by a mutation in the Na+/I- symporter.
Fujiwara H; Tatsumi K; Miki K; Harada T; Miyai K; Takai S; Amino N
Nat Genet; 1997 Jun; 16(2):124-5. PubMed ID: 9171822
[No Abstract] [Full Text] [Related]
[Next] [New Search]