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    Results: 1 to 20 of 36

    1.

    A 9-year follow-up of a girl with pyridoxine (vitamin B6)-dependent seizures: magnetic resonance spectroscopy findings.

    Dogan M, Dogan DG, Kahraman AS, Ozcan O, Yakinci C, Alkan A.

    Eur Rev Med Pharmacol Sci. 2012 May;16(5):695-8.

    PMID:
    22774414
    [PubMed - indexed for MEDLINE]
    2.

    Diagnosis of pyridoxine-dependent seizures in a nineteen-year-old patient.

    Russell KE, Mulligan SR, Mallory LA.

    Pediatr Neurol. 2012 Aug;47(2):141-3. doi: 10.1016/j.pediatrneurol.2012.04.018.

    PMID:
    22759694
    [PubMed - indexed for MEDLINE]
    3.

    The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.

    Struys EA, Bok LA, Emal D, Houterman S, Willemsen MA, Jakobs C.

    J Inherit Metab Dis. 2012 Sep;35(5):909-16. doi: 10.1007/s10545-011-9443-0. Epub 2012 Jan 17.

    PMID:
    22249334
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation.

    Yeghiazaryan NS, Striano P, Spaccini L, Pezzella M, Cassandrini D, Zara F, Mastrangelo M.

    Eur J Paediatr Neurol. 2011 Nov;15(6):547-50. doi: 10.1016/j.ejpn.2011.05.011. Epub 2011 Jul 5.

    PMID:
    21733724
    [PubMed - indexed for MEDLINE]
    5.

    Update on the aldehyde dehydrogenase gene (ALDH) superfamily.

    Jackson B, Brocker C, Thompson DC, Black W, Vasiliou K, Nebert DW, Vasiliou V.

    Hum Genomics. 2011 May;5(4):283-303.

    PMID:
    21712190
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    Neonatal vitamin-responsive epileptic encephalopathies.

    Gospe SM Jr.

    Chang Gung Med J. 2010 Jan-Feb;33(1):1-12. Review.

    PMID:
    20184790
    [PubMed - indexed for MEDLINE]
    Free Article
    7.

    Is antiquitin a mitochondrial Enzyme?

    Wong JW, Chan CL, Tang WK, Cheng CH, Fong WP.

    J Cell Biochem. 2010 Jan 1;109(1):74-81. doi: 10.1002/jcb.22381.

    PMID:
    19885858
    [PubMed - indexed for MEDLINE]
    8.

    Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature.

    Black WJ, Stagos D, Marchitti SA, Nebert DW, Tipton KF, Bairoch A, Vasiliou V.

    Pharmacogenet Genomics. 2009 Nov;19(11):893-902. doi: 10.1097/FPC.0b013e3283329023.

    PMID:
    19823103
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Pyridoxine-dependent seizures: 10-year follow-up of eight cases.

    Koul R.

    Neurol India. 2009 Jul-Aug;57(4):460-3. doi: 10.4103/0028-3886.55595.

    PMID:
    19770548
    [PubMed - indexed for MEDLINE]
    Free Article
    10.

    Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.

    Sadilkova K, Gospe SM Jr, Hahn SH.

    J Neurosci Methods. 2009 Oct 30;184(1):136-41. doi: 10.1016/j.jneumeth.2009.07.019. Epub 2009 Jul 23.

    PMID:
    19631689
    [PubMed - indexed for MEDLINE]
    11.

    Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.

    Bok LA, Been JV, Struys EA, Jakobs C, Rijper EA, Willemsen MA.

    Eur J Pediatr. 2010 Mar;169(3):297-303. doi: 10.1007/s00431-009-1020-2. Epub 2009 Jul 9.

    PMID:
    19588165
    [PubMed - indexed for MEDLINE]
    12.

    Very-late-onset pyridoxine-dependent seizures not linking to the known 5q31 locus.

    Kabakus N, Aydin M, Ugur SA, Durukan M, Tolun A.

    Pediatr Int. 2008 Oct;50(5):703-5. doi: 10.1111/j.1442-200X.2008.02712.x. No abstract available.

    PMID:
    19261126
    [PubMed - indexed for MEDLINE]
    13.

    Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.

    Kaczorowska M, Kmiec T, Jakobs C, Kacinski M, Kroczka S, Salomons GS, Struys EA, Jozwiak S.

    J Child Neurol. 2008 Dec;23(12):1455-9. doi: 10.1177/0883073808318543. Epub 2008 Oct 14.

    PMID:
    18854520
    [PubMed - indexed for MEDLINE]
    14.

    Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.

    Basura GJ, Hagland SP, Wiltse AM, Gospe SM Jr.

    Eur J Pediatr. 2009 Jun;168(6):697-704. doi: 10.1007/s00431-008-0823-x. Epub 2008 Sep 2.

    PMID:
    18762976
    [PubMed - indexed for MEDLINE]
    15.

    Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.

    Striano P, Battaglia S, Giordano L, Capovilla G, Beccaria F, Struys EA, Salomons GS, Jakobs C.

    Epilepsia. 2009 Apr;50(4):933-6. doi: 10.1111/j.1528-1167.2008.01741.x.

    PMID:
    18717709
    [PubMed - indexed for MEDLINE]
    16.

    Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamily.

    Marchitti SA, Brocker C, Stagos D, Vasiliou V.

    Expert Opin Drug Metab Toxicol. 2008 Jun;4(6):697-720. doi: 10.1517/17425255.4.6.697 . Review.

    PMID:
    18611112
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures.

    Been JV, Bok LA, Willemsen MA, Struys EA, Jakobs C.

    Arq Neuropsiquiatr. 2008 Jun;66(2A):288; author reply 288-9. No abstract available.

    PMID:
    18545806
    [PubMed - indexed for MEDLINE]
    Free Article
    18.

    Epileptic syndromes in infancy and childhood.

    Nabbout R, Dulac O.

    Curr Opin Neurol. 2008 Apr;21(2):161-6. doi: 10.1097/WCO.0b013e3282f7007e. Review.

    PMID:
    18317274
    [PubMed - indexed for MEDLINE]
    19.

    The pediatric neurotransmitter disorders.

    Pearl PL, Taylor JL, Trzcinski S, Sokohl A.

    J Child Neurol. 2007 May;22(5):606-16. Review.

    PMID:
    17690069
    [PubMed - indexed for MEDLINE]
    20.

    Non-compliance in pyridoxine-dependent seizures and a way out.

    Kumar P, Gupta VK, Mishra D.

    J Paediatr Child Health. 2007 Jul-Aug;43(7-8):571-2.

    PMID:
    17635690
    [PubMed - indexed for MEDLINE]

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