Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene

scientific article published in May 2013

Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1179/2046905512Y.0000000028
P698PubMed publication ID23925287

P2093author name stringC Jacobs
E A Struys
Sujatha Jagadeesh
S Suresh
V Murugan
Beena Suresh
G S Salomans
P2860cites workEpidemiology of pyridoxine dependent seizures in the NetherlandsQ24674884
Mutations in antiquitin in individuals with pyridoxine-dependent seizuresQ28118156
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).Q33944232
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-upQ34195320
Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.Q34852780
P433issue2
P921main subjectpyridoxine-dependent epilepsyQ7263591
P304page(s)113-115
P577publication date2013-05-01
P1433published inPaediatrics and international child healthQ26867049
P1476titlePyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene
P478volume33

Reverse relations

Q66679720Functional Nutrients for Epilepsycites workP2860

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