PubMed (OMIM) for id: 501

Year	Number of Results
1954	1
1963	1
1964	1
1967	2
1969	1
1971	1
1983	2
1985	1
1994	1
1997	1
2000	2
2005	2
2006	2
2007	3
2017	1
2022	1
2024	0

1

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.

Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Footitt EJ, Grønborg S, Janssen MCH, Longo N, Lunsing RJ, MacKenzie AE, Wijburg FA, Gospe SM Jr, Coughlin CR 2nd, van Karnebeek CDM. Tseng LA, et al. Mol Genet Metab. 2022 Apr;135(4):350-356. doi: 10.1016/j.ymgme.2022.02.005. Epub 2022 Feb 17. Mol Genet Metab. 2022. PMID: 35279367

2

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.

Pena IA, Roussel Y, Daniel K, Mongeon K, Johnstone D, Weinschutz Mendes H, Bosma M, Saxena V, Lepage N, Chakraborty P, Dyment DA, van Karnebeek CDM, Verhoeven-Duif N, Bui TV, Boycott KM, Ekker M, MacKenzie A. Pena IA, et al. Genetics. 2017 Dec;207(4):1501-1518. doi: 10.1534/genetics.117.300137. Epub 2017 Oct 23. Genetics. 2017. PMID: 29061647 Free PMC article.

3

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

Salomons GS, Bok LA, Struys EA, Pope LL, Darmin PS, Mills PB, Clayton PT, Willemsen MA, Jakobs C. Salomons GS, et al. Ann Neurol. 2007 Oct;62(4):414-8. doi: 10.1002/ana.21206. Ann Neurol. 2007. PMID: 17721876

4

Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.

Bok LA, Struys E, Willemsen MA, Been JV, Jakobs C. Bok LA, et al. Arch Dis Child. 2007 Aug;92(8):687-9. doi: 10.1136/adc.2006.103192. Epub 2006 Nov 6. Arch Dis Child. 2007. PMID: 17088338 Free PMC article.

5

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

Plecko B, Paul K, Paschke E, Stoeckler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Bosch F, Erwa W. Plecko B, et al. Hum Mutat. 2007 Jan;28(1):19-26. doi: 10.1002/humu.20433. Hum Mutat. 2007. PMID: 17068770

6

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. Mills PB, et al. Nat Med. 2006 Mar;12(3):307-9. doi: 10.1038/nm1366. Epub 2006 Feb 19. Nat Med. 2006. PMID: 16491085

7

Epidemiology of pyridoxine dependent seizures in the Netherlands.

Been JV, Bok LA, Andriessen P, Renier WO. Been JV, et al. Arch Dis Child. 2005 Dec;90(12):1293-6. doi: 10.1136/adc.2005.075069. Epub 2005 Sep 13. Arch Dis Child. 2005. PMID: 16159904 Free PMC article.

8

Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.

Bennett CL, Huynh HM, Chance PF, Glass IA, Gospe SM Jr. Bennett CL, et al. Neurogenetics. 2005 Sep;6(3):143-9. doi: 10.1007/s10048-005-0221-8. Epub 2005 Aug 2. Neurogenetics. 2005. PMID: 16075246

9

PRIDOXINE DEFICIENCY AND PYRIDOXINE DEPENDENCY IN INFANTS AND CHILDREN.

WALDINGER C. WALDINGER C. Postgrad Med. 1964 Apr;35:415-22. doi: 10.1080/00325481.1964.11695089. Postgrad Med. 1964. PMID: 14131641 No abstract available.

10

The vitamin B6 deficiency syndrome in human infancy: biochemical and clinical observations.

SCRIVER CR, HUTCHISON JH. SCRIVER CR, et al. Pediatrics. 1963 Feb;31:240-50. Pediatrics. 1963. PMID: 13992602 No abstract available.

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