메뉴 건너뛰기




Volumn 33, Issue 2, 2005, Pages 98-104

Thiamine-responsive congenital lactic acidosis: Clinical and biochemical studies

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOGLUTARIC ACID; CARRIER PROTEIN; OXIDOREDUCTASE; OXOACID; OXOGLUTARATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE; THIAMINE; THIAMINE PYROPHOSPHOKINASE;

EID: 23644460015     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2005.02.007     Document Type: Article
Times cited : (7)

References (23)
  • 1
    • 0029773867 scopus 로고    scopus 로고
    • The treatment of congenital lactic acidoses
    • A.A.M. Morris, J.V. Leonard The treatment of congenital lactic acidoses J Inherit Metab Dis 19 1996 573 580
    • (1996) J Inherit Metab Dis , vol.19 , pp. 573-580
    • Morris, A.A.M.1    Leonard, J.V.2
  • 2
    • 0035140640 scopus 로고    scopus 로고
    • Lactic acidosis update for critical care clinicians
    • F.C. Luft Lactic acidosis update for critical care clinicians J Am Soc Nephrol 12 2001 S15 S19
    • (2001) J Am Soc Nephrol , vol.12
    • Luft, F.C.1
  • 3
    • 0014527581 scopus 로고
    • Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia, and hyperalaninuria
    • D. Lonsdale, W.R. Faulkner, J.W. Price, R.R. Smeby Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia, and hyperalaninuria Pediatrics 43 1969 1025 1034
    • (1969) Pediatrics , vol.43 , pp. 1025-1034
    • Lonsdale, D.1    Faulkner, W.R.2    Price, J.W.3    Smeby, R.R.4
  • 4
    • 0015436009 scopus 로고
    • Thiamine-responsive lactic acidosis in a patient with deficient low-Km pyruvate carboxylase activity in liver
    • M.G. Brunette, E. Delvin, B. Hazel, C.R. Scriver Thiamine-responsive lactic acidosis in a patient with deficient low-Km pyruvate carboxylase activity in liver Pediatrics 50 1972 702 711
    • (1972) Pediatrics , vol.50 , pp. 702-711
    • Brunette, M.G.1    Delvin, E.2    Hazel, B.3    Scriver, C.R.4
  • 5
    • 0017393299 scopus 로고
    • Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency
    • H. Wick, K. Schweizer, R. Baumgartner Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency Agents Actions 7 1977 405 410
    • (1977) Agents Actions , vol.7 , pp. 405-410
    • Wick, H.1    Schweizer, K.2    Baumgartner, R.3
  • 6
    • 0021833576 scopus 로고
    • Thiamine-responsive inborn errors of metabolism
    • M. Duran, S.K. Wadman Thiamine-responsive inborn errors of metabolism J Inherit Metab Dis 8 1985 70 75
    • (1985) J Inherit Metab Dis , vol.8 , pp. 70-75
    • Duran, M.1    Wadman, S.K.2
  • 8
    • 0028111287 scopus 로고
    • Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia
    • E. Naito, M. Ito, E. Takeda, I. Yokota, S. Yoshijima, Y. Kuroda Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia Pediatr Res 36 1994 340 346
    • (1994) Pediatr Res , vol.36 , pp. 340-346
    • Naito, E.1    Ito, M.2    Takeda, E.3    Yokota, I.4    Yoshijima, S.5    Kuroda, Y.6
  • 9
    • 0028935549 scopus 로고
    • Thiamine responsive congenital lactic acidemia and type 1 muscle fiber atrophy
    • N. Murakami, A. Iso, E. Naito, Y. Kuroda, I. Nonaka Thiamine responsive congenital lactic acidemia and type 1 muscle fiber atrophy Brain Dev 17 1995 78
    • (1995) Brain Dev , vol.17 , pp. 78
    • Murakami, N.1    Iso, A.2    Naito, E.3    Kuroda, Y.4    Nonaka, I.5
  • 10
    • 0031873348 scopus 로고    scopus 로고
    • Thiamine-responsive lactic acidaemia: Role of pyruvate dehydrogenase complex
    • E. Naito, M. Ito, I. Yokota, T. Saijo, J. Matsuda, Y. Kuroda Thiamine-responsive lactic acidaemia Role of pyruvate dehydrogenase complex Eur J Pediatr 157 1998 648 652
    • (1998) Eur J Pediatr , vol.157 , pp. 648-652
    • Naito, E.1    Ito, M.2    Yokota, I.3    Saijo, T.4    Matsuda, J.5    Kuroda, Y.6
  • 11
    • 0003151325 scopus 로고
    • Thiamine
    • L.J. Machlin Marcel Dekker New York
    • C.J. Gubler Thiamine L.J. Machlin Handbook of vitamins 1991 Marcel Dekker New York 233 281
    • (1991) Handbook of Vitamins , pp. 233-281
    • Gubler, C.J.1
  • 12
    • 0028979684 scopus 로고
    • Mammalian α-keto acid dehydrogenase complexes: Gene regulation and genetic defects
    • M.S. Patel, R.A. Harris Mammalian α-keto acid dehydrogenase complexes Gene regulation and genetic defects FASEB J 9 1995 1164 1172
    • (1995) FASEB J , vol.9 , pp. 1164-1172
    • Patel, M.S.1    Harris, R.A.2
  • 13
    • 0017122788 scopus 로고
    • Metabolism of alfa-aminoadipic and alfa-ketoadipic acids: Studies using rat and beef liver, and human leukocytes
    • R.W. Wilson, C.M. Wilson, J.V. Higgins Metabolism of alfa-aminoadipic and alfa-ketoadipic acids Studies using rat and beef liver, and human leukocytes Clin Chim Acta 69 1976 323 332
    • (1976) Clin Chim Acta , vol.69 , pp. 323-332
    • Wilson, R.W.1    Wilson, C.M.2    Higgins, J.V.3
  • 14
    • 0032990411 scopus 로고    scopus 로고
    • Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness
    • V. Labay, T. Raz, D. Baron Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness Nat Genet 22 1999 300 304
    • (1999) Nat Genet , vol.22 , pp. 300-304
    • Labay, V.1    Raz, T.2    Baron, D.3
  • 15
    • 0033064140 scopus 로고    scopus 로고
    • The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter
    • J.C. Fleming, E. Tartaglini, M.P. Steinkamp, D.F. Schorderet, N. Cohen, E.J. Neufeld The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter Nat Genet 22 1999 305 308
    • (1999) Nat Genet , vol.22 , pp. 305-308
    • Fleming, J.C.1    Tartaglini, E.2    Steinkamp, M.P.3    Schorderet, D.F.4    Cohen, N.5    Neufeld, E.J.6
  • 16
    • 0033059196 scopus 로고    scopus 로고
    • Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome
    • G.A. Diaz, M. Banikazemi, K. Oishi, R.J. Desnick, B.D. Gelb Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome Nat Genet 22 1999 309 312
    • (1999) Nat Genet , vol.22 , pp. 309-312
    • Diaz, G.A.1    Banikazemi, M.2    Oishi, K.3    Desnick, R.J.4    Gelb, B.D.5
  • 17
    • 0034520569 scopus 로고    scopus 로고
    • Identification and characterization of the human and mouse SLC19A3 gene: A novel member of the reduced folate family of micronutrient transporter genes
    • J.D. Eudy, O. Spiegelstein, R.C. Barber, B.J. Wlodarczyk, J. Tabot, R.H. Finnell Identification and characterization of the human and mouse SLC19A3 gene A novel member of the reduced folate family of micronutrient transporter genes Mol Genet Metab 71 2000 581 590
    • (2000) Mol Genet Metab , vol.71 , pp. 581-590
    • Eudy, J.D.1    Spiegelstein, O.2    Barber, R.C.3    Wlodarczyk, B.J.4    Tabot, J.5    Finnell, R.H.6
  • 19
    • 0026442483 scopus 로고
    • Identification, purification and reconstitution of thiamine metabolizing enzymes in human red blood cells
    • Y. Egi, S. Koyama, T. Shioda, K. Yamada, T. Kawasaki Identification, purification and reconstitution of thiamine metabolizing enzymes in human red blood cells Biochim Biophys Acta 1160 1992 171 178
    • (1992) Biochim Biophys Acta , vol.1160 , pp. 171-178
    • Egi, Y.1    Koyama, S.2    Shioda, T.3    Yamada, K.4    Kawasaki, T.5
  • 20
    • 0035951614 scopus 로고    scopus 로고
    • Isolation and characterization of a human thiamine pyrophosphokinase cDNA
    • K. Nosaka, M. Onozuka, N. Kakazu Isolation and characterization of a human thiamine pyrophosphokinase cDNA Biochim Biophys Acta 1517 2001 293 297
    • (2001) Biochim Biophys Acta , vol.1517 , pp. 293-297
    • Nosaka, K.1    Onozuka, M.2    Kakazu, N.3
  • 21
    • 0021688283 scopus 로고
    • Use of cyclosporin a in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines
    • M.A. Anderson, J.F. Gusella Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines In Vitro 20 1984 856 858
    • (1984) In Vitro , vol.20 , pp. 856-858
    • Anderson, M.A.1    Gusella, J.F.2
  • 22
    • 0001525440 scopus 로고
    • An enzymatic approach to the study of the Krebs tricarboxylic acid cycle
    • V.M. Darley-Usmar D. Rickwood M.T. Wilson IRL Press Oxford
    • J.B. Robinson, L.G. Brent, B. Sumegi, P.A. Srere An enzymatic approach to the study of the Krebs tricarboxylic acid cycle V.M. Darley-Usmar D. Rickwood M.T. Wilson Mitochondria A practical approach 1987 IRL Press Oxford 153 170
    • (1987) Mitochondria: A Practical Approach , pp. 153-170
    • Robinson, J.B.1    Brent, L.G.2    Sumegi, B.3    Srere, P.A.4
  • 23
    • 0032841387 scopus 로고    scopus 로고
    • NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
    • T. Yamamoto, E. Nanba, H. Ninomiya NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C Hum Genet 105 1999 10 16
    • (1999) Hum Genet , vol.105 , pp. 10-16
    • Yamamoto, T.1    Nanba, E.2    Ninomiya, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.