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Items: 8

1.

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT.

Nat Med. 2006 Mar;12(3):307-9. Epub 2006 Feb 19.

PMID:
16491085
2.

Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy.

Willemsen MA, Mavinkurve-Groothuis AM, Wevers RA, Rotteveel JJ, Jakobs C.

Ann Neurol. 2005 Oct;58(4):653. No abstract available.

PMID:
16178031
3.

Epidemiology of pyridoxine dependent seizures in the Netherlands.

Been JV, Bok LA, Andriessen P, Renier WO.

Arch Dis Child. 2005 Dec;90(12):1293-6. Epub 2005 Sep 13.

4.

Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.

Plecko B, Hikel C, Korenke GC, Schmitt B, Baumgartner M, Baumeister F, Jakobs C, Struys E, Erwa W, Stöckler-Ipsiroglu S.

Neuropediatrics. 2005 Jun;36(3):200-5.

PMID:
15944906
5.

Pyridoxine-dependent seizures: a clinical and biochemical conundrum.

Baxter P.

Biochim Biophys Acta. 2003 Apr 11;1647(1-2):36-41. Review.

PMID:
12686105
6.

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.

Plecko B, Stöckler-Ipsiroglu S, Paschke E, Erwa W, Struys EA, Jakobs C.

Ann Neurol. 2000 Jul;48(1):121-5.

PMID:
10894227
7.
8.

Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography.

Kok RM, Kaster L, de Jong AP, Poll-Thé B, Saudubray JM, Jakobs C.

Clin Chim Acta. 1987 Sep 30;168(2):143-52.

PMID:
3315316

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