메뉴 건너뛰기




Volumn , Issue , 2006, Pages 315-319

Disorders of proline and serine metabolism

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84895356497     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-28785-8_25     Document Type: Chapter
Times cited : (1)

References (16)
  • 1
    • 0040018035 scopus 로고
    • New renal tubular amino acid transport system and a new hereditary disorder of amino acid metabolism
    • Scriver CR, Schafer IA, Efron ML (1961) New renal tubular amino acid transport system and a new hereditary disorder of amino acid metabolism. Nature 192:672
    • (1961) Nature , vol.192 , pp. 672
    • Scriver, C.R.1    Schafer, I.A.2    Efron, M.L.3
  • 2
    • 0031466486 scopus 로고    scopus 로고
    • The proline biosynthesis in living organisms
    • Aral B, Kamoun P (1997) The proline biosynthesis in living organisms. Amino Acids 13:189-217
    • (1997) Amino Acids , vol.13 , pp. 189-217
    • Aral, B.1    Kamoun, P.2
  • 3
    • 18544366528 scopus 로고    scopus 로고
    • PRODH mutations and hyperprolinemia in a subset of schizophrenic patients
    • Jacquet H, Raux G, Thibaut F et al (2002) PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet 11:2243-2249
    • (2002) Hum Mol Genet , vol.11 , pp. 2243-2249
    • Jacquet, H.1    Raux, G.2    Thibaut, F.3
  • 4
    • 13844292418 scopus 로고    scopus 로고
    • Functional consequences of PRODH missense mutations
    • Bender HU, Almasham S, Steel G et al (2005) Functional consequences of PRODH missense mutations. Am J Hum Genet 76:409-420
    • (2005) Am J Hum Genet , vol.76 , pp. 409-420
    • Bender, H.U.1    Almasham, S.2    Steel, G.3
  • 5
    • 0029933685 scopus 로고    scopus 로고
    • Association of hyperprolinemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: Evidence for a contiguous gene syndrome locating the proline oxidase gene
    • Jaeken J, Goemans N, Fryns J-P et al (1996) Association of hyperprolinemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene. J Inherit Metab Dis 19:275-277
    • (1996) J Inherit Metab Dis , vol.19 , pp. 275-277
    • Jaeken, J.1    Goemans, N.2    Fryns, J.-P.3
  • 6
    • 0035805636 scopus 로고    scopus 로고
    • Pyridoxal phosphate deactivation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II
    • Farrant RD, Walker V, Mills GA et al (2000) Pyridoxal phosphate deactivation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II. J Biol Chem 276:15107-15116
    • (2000) J Biol Chem , vol.276 , pp. 15107-15116
    • Farrant, R.D.1    Walker, V.2    Mills, G.A.3
  • 7
    • 33745083423 scopus 로고    scopus 로고
    • B6-Responsive disorders: A model of vitamin dependency
    • Clayton PT (2006) B6-Responsive disorders: a model of vitamin dependency. J Inherit Metab Dis 29:317-326
    • (2006) J Inherit Metab Dis , vol.29 , pp. 317-326
    • Clayton, P.T.1
  • 8
    • 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 (1998) Mutations in the delta 1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. Hum Mol Genet 7:1411-1415
    • (1998) Hum Mol Genet , vol.7 , pp. 1411-1415
    • Geraghty, M.T.1    Vaughn, D.2    Nicholson, A.J.3
  • 9
    • 0030035420 scopus 로고    scopus 로고
    • 3-Phosphoglycerate dehydrogenase deficiency: An inborn error of serine biosynthesis
    • Jaeken J, Detheux M, Van Maldergem L et al (1996) 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch Dis Child 74:542-545
    • (1996) Arch Dis Child , vol.74 , pp. 542-545
    • Jaeken, J.1    Detheux, M.2    Van Maldergem, L.3
  • 11
    • 0033652293 scopus 로고    scopus 로고
    • Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis
    • Klomp LW, de Koning TJ, Malingre HE et al (2000) Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - a neurometabolic disorder associated with reduced L-serine biosynthesis. Am J Hum Genet 67:1389-1399
    • (2000) Am J Hum Genet , vol.67 , pp. 1389-1399
    • Klomp, L.W.1    De Koning, T.J.2    Malingre, H.E.3
  • 12
    • 10944270723 scopus 로고    scopus 로고
    • Prenatal and early postnatal treatment in 3-phosphoglycerate- dehydrogenase deficiency
    • de Koning TJ, Klomp LW, van Oppen AC et al (2004) Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. Lancet 364:2221-2222
    • (2004) Lancet , vol.364 , pp. 2221-2222
    • De Koning, T.J.1    Klomp, L.W.2    Van Oppen, A.C.3
  • 13
    • 0034467971 scopus 로고    scopus 로고
    • Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency
    • de Koning TJ, Jaeken J, Pineda M et al (2000) Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. Neuropediatrics 31:287-292
    • (2000) Neuropediatrics , vol.31 , pp. 287-292
    • De Koning, T.J.1    Jaeken, J.2    Pineda, M.3
  • 14
    • 0030746091 scopus 로고    scopus 로고
    • Phosphoserine phosphatase deficiency in a patient with Williams syndrome
    • Jaeken J, Detheux M, Fryns J-P et al (1997) Phosphoserine phosphatase deficiency in a patient with Williams syndrome. J Med Genet 34:594-596
    • (1997) J Med Genet , vol.34 , pp. 594-596
    • Jaeken, J.1    Detheux, M.2    Fryns, J.-P.3
  • 15
    • 1342324903 scopus 로고    scopus 로고
    • Mutations responsible for 3-phosphoserine phosphatase deficiency
    • Veiga-da-Cunha M, Collet JF, Prieur B et al (2004) Mutations responsible for 3-phosphoserine phosphatase deficiency. Eur J Hum Genet 12:163-166
    • (2004) Eur J Hum Genet , vol.12 , pp. 163-166
    • Veiga-da-Cunha, M.1    Collet, J.F.2    Prieur, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.