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Volumn 102, Issue 2, 2011, Pages 214-215

Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet

Author keywords

Modified Atkins diet; Poor compliance; X linked PDH deficiency

Indexed keywords

CARBOHYDRATE; MEDIUM CHAIN TRIACYLGLYCEROL; PYRUVATE DEHYDROGENASE; THIAMINE;

EID: 78651455294     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.11.001     Document Type: Article
Times cited : (18)

References (7)
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    • Robinson B. Lactic Acidemia: Disorders of Pyruvate Carboxylase and Pyruvate Dehydrogenase. The Metabolic and Molecular Basis of Inherited Disease 2001, Vol 3:2275-2295. McGraw-Hill, New York, NY. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
    • (2001) The Metabolic and Molecular Basis of Inherited Disease , vol.3 , pp. 2275-2295
    • Robinson, B.1
  • 3
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    • Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency
    • Cederbaum S.D., Blass J.P., Minkoff N., Brown W.J., Cotton M.E., Harris S.H. Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency. Pediatr Res 1976, 10:713-720.
    • (1976) Pediatr Res , vol.10 , pp. 713-720
    • Cederbaum, S.D.1    Blass, J.P.2    Minkoff, N.3    Brown, W.J.4    Cotton, M.E.5    Harris, S.H.6
  • 5
    • 0037106021 scopus 로고    scopus 로고
    • Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency
    • Naito E., Ito M., Yokota I., Saijo T., Ogawa Y., Kuroda Y. Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency. J Neurol Sci 2002, 201:33-37.
    • (2002) J Neurol Sci , vol.201 , pp. 33-37
    • Naito, E.1    Ito, M.2    Yokota, I.3    Saijo, T.4    Ogawa, Y.5    Kuroda, Y.6
  • 6
    • 58849155005 scopus 로고    scopus 로고
    • Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group
    • Kossoff E.H., Zubec-Kania B.A., Amark P.E., Ballaban-Gil K.R., Bergqvist A.G.C., Blackford R., et al. Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group. Epilepsia 2009, 50(2):304-317.
    • (2009) Epilepsia , vol.50 , Issue.2 , pp. 304-317
    • Kossoff, E.H.1    Zubec-Kania, B.A.2    Amark, P.E.3    Ballaban-Gil, K.R.4    Bergqvist, A.G.C.5    Blackford, R.6
  • 7
    • 0029785174 scopus 로고
    • Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3bp deletion(-R282), and 16 bp insertion/frameshift (K358VS→TVDQS)
    • Tripatara A., Kerr D.S., Lusk M.M., Kolli M., Tan J., Patel M.S. Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3bp deletion(-R282), and 16 bp insertion/frameshift (K358VS→TVDQS). Hum Mutat 1992, 8:180-182.
    • (1992) Hum Mutat , vol.8 , pp. 180-182
    • Tripatara, A.1    Kerr, D.S.2    Lusk, M.M.3    Kolli, M.4    Tan, J.5    Patel, M.S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.