Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 104

1.

Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.

Hitzert MM, Bos AF, Bergman KA, Veldman A, Schwarz G, Santamaria-Araujo JA, Heiner-Fokkema R, Sival DA, Lunsing RJ, Arjune S, Kosterink JG, van Spronsen FJ.

Pediatrics. 2012 Oct;130(4):e1005-10. doi: 10.1542/peds.2011-3330. Epub 2012 Sep 17.

PMID:
22987873
[PubMed - indexed for MEDLINE]
Free Article
2.

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. doi: 10.1542/peds.2009-2192. Epub 2010 Apr 12.

PMID:
20385644
[PubMed - indexed for MEDLINE]
Free Article
3.

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. doi: 10.1016/j.ejpn.2012.10.003. Epub 2012 Oct 31. Review.

PMID:
23122324
[PubMed - indexed for MEDLINE]
4.

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. doi: 10.1038/jp.2011.192.

PMID:
23128059
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
21187823
[PubMed - indexed for MEDLINE]
6.

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:S401-7. doi: 10.1007/s10545-010-9198-z. Epub 2010 Sep 24.

PMID:
20865336
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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. doi: 10.1542/peds.2012-1094. Epub 2012 Nov 12.

PMID:
23147983
[PubMed - indexed for MEDLINE]
Free Article
8.

Molybdenum cofactor deficiency: metabolic link between taurine and S-sulfocysteine.

Belaidi AA, Schwarz G.

Adv Exp Med Biol. 2013;776:13-9. doi: 10.1007/978-1-4614-6093-0_2.

PMID:
23392866
[PubMed - indexed for MEDLINE]
9.

Cramped synchronized general movements in preterm infants as an early marker for cerebral palsy.

Ferrari F, Cioni G, Einspieler C, Roversi MF, Bos AF, Paolicelli PB, Ranzi A, Prechtl HF.

Arch Pediatr Adolesc Med. 2002 May;156(5):460-7.

PMID:
11980551
[PubMed - indexed for MEDLINE]
10.

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. doi: 10.1542/peds.2013-0935. Epub 2013 Dec 30.

PMID:
24379235
[PubMed - indexed for MEDLINE]
11.

Structure and stability of the molybdenum cofactor intermediate cyclic pyranopterin monophosphate.

Santamaria-Araujo JA, Wray V, Schwarz G.

J Biol Inorg Chem. 2012 Jan;17(1):113-22. doi: 10.1007/s00775-011-0835-2. Epub 2011 Aug 30.

PMID:
21877100
[PubMed - indexed for MEDLINE]
12.

Prenatal brain disruption in molybdenum cofactor deficiency.

Carmi-Nawi N, Malinger G, Mandel H, Ichida K, Lerman-Sagie T, Lev D.

J Child Neurol. 2011 Apr;26(4):460-4. doi: 10.1177/0883073810383017. Epub 2011 Jan 31.

PMID:
21285035
[PubMed - indexed for MEDLINE]
13.

Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula.

Fattal-Valevski A, Kesler A, Sela BA, Nitzan-Kaluski D, Rotstein M, Mesterman R, Toledano-Alhadef H, Stolovitch C, Hoffmann C, Globus O, Eshel G.

Pediatrics. 2005 Feb;115(2):e233-8.

PMID:
15687431
[PubMed - indexed for MEDLINE]
14.

Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum.

Belaidi AA, Arjune S, Santamaria-Araujo JA, Sass JO, Schwarz G.

JIMD Rep. 2012;5:35-43. doi: 10.1007/8904_2011_89. Epub 2011 Dec 17.

PMID:
23430915
[PubMed]
Free PMC Article
15.

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. doi: 10.1016/j.pediatrneurol.2012.04.013.

PMID:
22759696
[PubMed - indexed for MEDLINE]
16.

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. Epub 2006 Dec 8.

PMID:
17158010
[PubMed - indexed for MEDLINE]
17.

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. doi: 10.1111/j.1399-0004.2011.01709.x. No abstract available.

PMID:
22040219
[PubMed - indexed for MEDLINE]
18.

[Clinical significance of general movements].

Tsubokura H.

No To Hattatsu. 2002 Mar;34(2):122-8. Review. Japanese.

PMID:
11905008
[PubMed - indexed for MEDLINE]
19.

Molybdenum cofactor deficiency.

Arnold GL, Greene CL, Stout JP, Goodman SI.

J Pediatr. 1993 Oct;123(4):595-8.

PMID:
8410516
[PubMed - indexed for MEDLINE]
20.

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.

Reiss J, Hahnewald R.

Hum Mutat. 2011 Jan;32(1):10-8. doi: 10.1002/humu.21390. Review.

PMID:
21031595
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk