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Items: 1 to 20 of 110

1.

Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn.

Nunes ML, Mugnol F, Bica I, Fiori RM.

J Child Neurol. 2002 Mar;17(3):222-4.

PMID:
12026240
2.

Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report.

Demirbilek H, Alanay Y, Alikaşifoğlu A, Topçu M, Mornet E, Gönç N, Özön A, Kandemir N.

J Clin Res Pediatr Endocrinol. 2012 Mar;4(1):34-8. doi: 10.4274/jcrpe.473.

3.

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.

Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, Ericson KL, Whyte MP, Högler W.

Bone. 2007 Jun;40(6):1655-61. Epub 2007 Feb 14.

PMID:
17395561
4.

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene.

Güzel Nur B, Çelmeli G, Manguoğlu E, Soyucen E, Bircan İ, Mıhçı E.

J Clin Res Pediatr Endocrinol. 2016 Sep 1;8(3):360-4. doi: 10.4274/jcrpe.2798. Epub 2016 Apr 18.

5.

Neonatal hypophosphatasia and seizures. A case report.

Smilari P, Romeo DM, Palazzo P, Meli C, Sorge G.

Minerva Pediatr. 2005 Oct;57(5):319-23.

PMID:
16205618
6.

Pyridoxine-dependent seizures: report of a case with atypical clinical features and abnormal MRI scans.

Tanaka R, Okumura M, Arima J, Yamakura S, Momoi T.

J Child Neurol. 1992 Jan;7(1):24-8.

PMID:
1552147
7.

Pyridoxine-dependent seizures: long-term follow-up of two cases with clinical and MRI findings, and pyridoxine treatment.

Ulvi H, Müngen B, Yakinci C, Yoldaş T.

J Trop Pediatr. 2002 Oct;48(5):303-6.

PMID:
12405174
8.

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

de Roo MGA, Abeling NGGM, Majoie CB, Bosch AM, Koelman JHTM, Cobben JM, Duran M, Poll-The BT.

Mol Genet Metab. 2014 Mar;111(3):404-407. doi: 10.1016/j.ymgme.2013.09.014. Epub 2013 Sep 26.

PMID:
24100244
9.

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.

Schmitt B, Baumgartner M, Mills PB, Clayton PT, Jakobs C, Keller E, Wohlrab G.

Dev Med Child Neurol. 2010 Jul;52(7):e133-42. doi: 10.1111/j.1469-8749.2010.03660.x. Epub 2010 Mar 29.

10.

[Pyridoxine dependence: the importance of the clinical diagnosis and early treatment].

Caraballo R, Garro F, Cersósimo R, Buompadre C, Gañez LA, Fejerman N.

Rev Neurol. 2004 Jan 1-15;38(1):49-52. Spanish.

11.

Randomized, controlled trial of high-dose intravenous pyridoxine in the treatment of recurrent seizures in children.

Jiao FY, Gao DY, Takuma Y, Wu S, Liu ZY, Zhang XK, Lieu NS, Ge ZL, Chui W, Li HR, Cao YM, Bai AN, Liu SB.

Pediatr Neurol. 1997 Jul;17(1):54-7.

PMID:
9308977
12.

Pyridoxine dependency seizures: report of a case with unusual features.

Pettit RE.

J Child Neurol. 1987 Jan;2(1):38-40.

PMID:
3114362
13.

Pyridoxine-dependent seizures: a case report and a critical review of the literature.

Gupta VK, Mishra D, Mathur I, Singh KK.

J Paediatr Child Health. 2001 Dec;37(6):592-6. Review.

PMID:
11903843
14.

A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia.

Yamamoto H, Sasamoto Y, Miyamoto Y, Murakami H, Kamiyama N.

Pediatr Neurol. 2004 Mar;30(3):216-8.

PMID:
15033207
15.

Hypophosphatasia in a newborn infant.

Tekinalp G, Yükselen A, Balkanci F, Coşkun T, Yurdakök M.

Turk J Pediatr. 1995 Jan-Mar;37(1):61-5.

PMID:
7732610
16.

Electroencephalographic changes in pyridoxine-dependant epilepsy: new observations.

Naasan G, Yabroudi M, Rahi A, Mikati MA.

Epileptic Disord. 2009 Dec;11(4):293-300. doi: 10.1684/epd.2009.0280. Epub 2009 Dec 23.

17.

Pyridoxine-dependent seizures.

Crowell GF, Roach ES.

Am Fam Physician. 1983 Mar;27(3):183-7.

PMID:
6829389
18.

Late-onset pyridoxine-dependent seizures: report of two cases.

Chou ML, Wang HS, Hung PC, Sun PC, Huang SC.

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1995 Nov-Dec;36(6):434-7.

PMID:
8592931
19.

Pyridoxine-dependent epilepsy initially responsive to phenobarbital.

Lin J, Lin K, Masruha MR, Vilanova LC.

Arq Neuropsiquiatr. 2007 Dec;65(4A):1026-9.

20.

Pyridoxine dependent seizures--a wider clinical spectrum.

Bankier A, Turner M, Hopkins IJ.

Arch Dis Child. 1983 Jun;58(6):415-8.

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