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Volumn 46, Issue 2, 2004, Pages 167-169

Type II hyperprolinemia: A case report

Author keywords

Hyperprolinemia

Indexed keywords

CARBAMAZEPINE; CLONAZEPAM; GLYCINE; HYDROXYPROLINE; ORNITHINE; PROLINE; PYRROLINE 5 CARBOXYLATE REDUCTASE; VALPROIC ACID;

EID: 2942516055     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (16)

References (8)
  • 1
    • 0003154749 scopus 로고    scopus 로고
    • Disorders of proline and hydroxyproline metabolism
    • HU AC, Scriver CR, Beaudet AL, Sly WS, Valle D (eds). (8th ed) New York: Mc Graw Hill
    • Phang JM, HU AC, Valle D. Disorders of proline and hydroxyproline metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease (8th ed) Vol 2. New York: Mc Graw Hill; 2001: 1821-1839.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , vol.2 , pp. 1821-1839
    • Phang, J.M.1    Valle, D.2
  • 2
    • 0025325218 scopus 로고
    • High urinary excretion of N- (pyrrole-2-caboxyl) glycine in type II hyperprolinemia
    • Wajner M, Wannmacher CM, Purkiss P. High urinary excretion of N- (pyrrole-2-caboxyl) glycine in type II hyperprolinemia. Clin Genet 1990; 37: 485-489.
    • (1990) Clin. Genet. , vol.37 , pp. 485-489
    • Wajner, M.1    Wannmacher, C.M.2    Purkiss, P.3
  • 3
    • 0031596295 scopus 로고    scopus 로고
    • Mutations in the Delta 1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia
    • Geraghty MT, Vaughn D, Nicholson AJ, et al. Mutations in the Delta 1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. Hum Mol Genet 1998; 7: 1411-1415.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1411-1415
    • Geraghty, M.T.1    Vaughn, D.2    Nicholson, A.J.3
  • 4
    • 0035805636 scopus 로고    scopus 로고
    • Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hypeprprolinemia type II
    • Farrant RD, Walker V, Mills GA, Mell or JM, Langley GJ Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hypeprprolinemia type II. J Biol Chem 2001; 276: 15107-15116.
    • (2001) J. Biol. Chem. , vol.276 , pp. 15107-15116
    • Farrant, R.D.1    Walker, V.2    Mills, G.A.3    Mellor, J.M.4    Langley, G.J.5
  • 6
    • 0025924702 scopus 로고
    • A case of type I hyperprolinemia associated with photogenic epilepsy
    • Ishikawa Y, Kameda K, Okabe M, et al. A case of type I hyperprolinemia associated with photogenic epilepsy. No To Hattatsu 1991; 23: 81-86.
    • (1991) No to Hattatsu , vol.23 , pp. 81-86
    • Ishikawa, Y.1    Kameda, K.2    Okabe, M.3
  • 7
    • 0025913629 scopus 로고
    • Type II hyperprolinemia with renal involvement
    • Bellet H, Morin D, Daude H, et al. Type II hyperprolinemia with renal involvement. J Inherit Metab Dis 1991; 14: 846-847.
    • (1991) J. Inherit. Metab. Dis. , vol.14 , pp. 846-847
    • Bellet, H.1    Morin, D.2    Daude, H.3
  • 8
    • 0016840967 scopus 로고
    • Asymptomatic type II hyperprolinemia associated with hyperglycinaemia in three sibs
    • Pavone L, Mollica F, Levy HL. Asymptomatic type II hyperprolinemia associated with hyperglycinaemia in three sibs. Arch Dis Child 1975; 50: 637-641.
    • (1975) Arch. Dis. Child , vol.50 , pp. 637-641
    • Pavone, L.1    Mollica, F.2    Levy, H.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.