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JIMD Reports
Volumn 9, Issue , 2013, Pages 139-142
Partial pyridoxine responsiveness in PNPO deficiency
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EID: 85054429229     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_194     Document Type: Chapter
Times cited : (33)
References (9)
  • 1
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    • Electroencephalography in metabolic epilepsies
    • Pearl PL (ed), Demos Pubs, New York
    • Alduligan M and Pearl PL (2012) Electroencephalography in metabolic epilepsies. In: Pearl PL (ed) Inherited metabolic epilepsies. Demos Pubs, New York
    • (2012) Inherited Metabolic Epilepsies
    • Alduligan, M.1    Pearl, P.L.2
  • 2
    • 85060346032 scopus 로고    scopus 로고
    • Measurement of plasma B (6) vitamer profiles in children with inborn errors of vitamin B(6) metabolism using an LC-MS/MS method
    • [Epub ahead of print]
    • Footitt EJ, Clayton PT, Mills K et al (2012) Measurement of plasma B (6) vitamer profiles in children with inborn errors of vitamin B(6) metabolism using an LC-MS/MS method. J Inherit Metab Dis (2012) [Epub ahead of print]
    • (2012) J Inherit Metab Dis , vol.2012
    • Footitt, E.J.1    Clayton, P.T.2    Mills, K.3
  • 3
    • 0000743130 scopus 로고
    • Pyridoxine dependency: Report of a case of intractable convulsions in an infant controlled by pyridoxine
    • Hunt AD Jr, Stokes JJ, McCrory WW, Stroud HH (1954) Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics 13:140–145
    • (1954) Pediatrics , vol.13 , pp. 140-145
    • Hunt, A.D.1    Stokes, J.J.2    McCrory, W.W.3    Stroud, H.H.4
  • 5
    • 33644821320 scopus 로고    scopus 로고
    • Mutations in antiquitin in individuals with pyridoxine-dependent seizures
    • Mills PB, Struys E, Jakobs C et al (2006) Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 12:307–309
    • (2006) Nat Med , vol.12 , pp. 307-309
    • Mills, P.B.1    Struys, E.2    Jakobs, C.3
  • 6
    • 64449084287 scopus 로고    scopus 로고
    • New treatment paradigms in neonatal seizures
    • Pearl PL (2009) New treatment paradigms in neonatal seizures. J Inherit Metab Dis 32:204–213
    • (2009) J Inherit Metab Dis , vol.32 , pp. 204-213
    • Pearl, P.L.1
  • 7
    • 77954645270 scopus 로고    scopus 로고
    • Seizures and paroxysmal events: Symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency
    • Schmitt B, Baumgartner M, Mills PB et al (2010) Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. Dev Med Child Neurol 52:e133–e142
    • (2010) Dev Med Child Neurol , vol.52 , pp. e133-e142
    • Schmitt, B.1    Baumgartner, M.2    Mills, P.B.3
  • 8
    • 80052599284 scopus 로고    scopus 로고
    • Pyridoxine dependent epilepsy and antiquitin deficiency: Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up
    • Stockler S, Plecko B, Gospe SMJR et al (2011) Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab 104:48–60
    • (2011) Mol Genet Metab , vol.104 , pp. 48-60
    • Stockler, S.1    Plecko, B.2    Gospe, S.M.J.R.3
  • 9
    • 34250754059 scopus 로고    scopus 로고
    • Inborn errors affecting vitamin B6 metabolism
    • Surtees R, Mills P, Clayton P (2006) Inborn errors affecting vitamin B6 metabolism. Future Neurol 1(5):615–520
    • (2006) Future Neurol , vol.1 , Issue.5 , pp. 615-520
    • Surtees, R.1    Mills, P.2    Clayton, P.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.