메뉴 건너뛰기




Volumn 29, Issue 2, 1999, Pages 138-143

Glutaric aciduria type I: Ultrasonographic demonstration of early signs

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARIC ACID;

EID: 0033011706     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002470050558     Document Type: Article
Times cited : (52)

References (26)
  • 1
    • 0029018872 scopus 로고
    • Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency
    • Hoffmann GF, Böhles HJ, Burlina A, et al (1995) Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency. J Inher Metab Dis 18: 173-176
    • (1995) J Inher Metab Dis , vol.18 , pp. 173-176
    • Hoffmann, G.F.1    Böhles, H.J.2    Burlina, A.3
  • 2
    • 0025719169 scopus 로고
    • Glutaryl-coenzyme A dehydrogenase deficiency: A distinct encephalopathy
    • Hoffmann GF, Trefz FK, Barth BG, et al (1991) Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy. Pediatrics 88: 1194-1203
    • (1991) Pediatrics , vol.88 , pp. 1194-1203
    • Hoffmann, G.F.1    Trefz, F.K.2    Barth, B.G.3
  • 3
    • 0016420661 scopus 로고
    • Glutaric aciduria: A new disorder of amino acid metabolism
    • Goodman SI, Markey SP, Moe PG, et al (1975) Glutaric aciduria: a new disorder of amino acid metabolism. Biochem Med 12: 12-21
    • (1975) Biochem Med , vol.12 , pp. 12-21
    • Goodman, S.I.1    Markey, S.P.2    Moe, P.G.3
  • 4
    • 17744405461 scopus 로고
    • Glutaric aciduria: A common metabolic disorder?
    • Kyllerman M, Steen G (1980) Glutaric aciduria: a common metabolic disorder? Arch Fr Pediatr 37: 279
    • (1980) Arch Fr Pediatr , vol.37 , pp. 279
    • Kyllerman, M.1    Steen, G.2
  • 5
    • 0025913785 scopus 로고
    • Macrocephaly: An important indication for organic acid analysis
    • Hoffmann GF, Trefz FK, Barth BG, et al (1991) Macrocephaly: an important indication for organic acid analysis. J Inher Metab Dis 14: 329-332
    • (1991) J Inher Metab Dis , vol.14 , pp. 329-332
    • Hoffmann, G.F.1    Trefz, F.K.2    Barth, B.G.3
  • 6
    • 0025917890 scopus 로고
    • Macrocephaly as an initial symptom of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
    • Trefz FK, Hoffmann GF, Mayatepek E, et al (1991) Macrocephaly as an initial symptom of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). Monatsschr Kinderheilkd 139: 754-758
    • (1991) Monatsschr Kinderheilkd , vol.139 , pp. 754-758
    • Trefz, F.K.1    Hoffmann, G.F.2    Mayatepek, E.3
  • 7
    • 0024400683 scopus 로고
    • Glutaric aciduria type I: Enzymatic and neuroradiologic investigations of two kindreds
    • Amir N, Elpeleg ON, Shalev RS, et al (1989) Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds. J Pediatr 114: 983-989
    • (1989) J Pediatr , vol.114 , pp. 983-989
    • Amir, N.1    Elpeleg, O.N.2    Shalev, R.S.3
  • 8
    • 0025582744 scopus 로고
    • Ultraschall, computertomographie und Magnetresonanztomographie hei einem kind mit makrocephalie und glutarazidurie typ I
    • Doringer E, Christensen E, Colombo JB, et al (1990) Ultraschall, Computertomographie und Magnetresonanztomographie hei einem Kind mit Makrocephalie und Glutarazidurie Typ I. Rofo 153: 683-687
    • (1990) Rofo , vol.153 , pp. 683-687
    • Doringer, E.1    Christensen, E.2    Colombo, J.B.3
  • 9
    • 0027483353 scopus 로고
    • Development of cerebral atrophy, therapy and monitoring of therapy in glutaric aciduria type I (glutaryl-CoA dehyydrogenase deficiency)
    • Lawrenz Wolf B, Herberg KP, Hoffmann GF, et al (1993) Development of cerebral atrophy, therapy and monitoring of therapy in glutaric aciduria type I (glutaryl-CoA dehyydrogenase deficiency). Klin Pediatr 205: 23-29
    • (1993) Klin Pediatr , vol.205 , pp. 23-29
    • Lawrenz Wolf, B.1    Herberg, K.P.2    Hoffmann, G.F.3
  • 10
    • 0019796280 scopus 로고
    • Real time sonographic scanning of the neonatal cranium: Technique and normal anatomy
    • Shuman WP, Rogers JV, Mack LA, et al (1981) Real time sonographic scanning of the neonatal cranium: technique and normal anatomy. AJNR 2: 349-356
    • (1981) AJNR , vol.2 , pp. 349-356
    • Shuman, W.P.1    Rogers, J.V.2    Mack, L.A.3
  • 11
    • 0020583758 scopus 로고
    • Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: Application to glutaric aciduria type I
    • Christensen E (1983) Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I. Clin Chim Acta 129: 91-97
    • (1983) Clin Chim Acta , vol.129 , pp. 91-97
    • Christensen, E.1
  • 12
    • 0024601727 scopus 로고
    • Quantitative analysis for organic acids in biological samples: Batch isolation followed by gas chromatographic-mass spectrometric analysis
    • Hoffmann G, Aramaki S, Bluhm-Hofmann E, et al (1989) Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis. Clin Chem 35: 587-595
    • (1989) Clin Chem , vol.35 , pp. 587-595
    • Hoffmann, G.1    Aramaki, S.2    Bluhm-Hofmann, E.3
  • 13
    • 0025968397 scopus 로고
    • Glutaric aciduria type I. Brain CT features and diagnostic pitfall
    • Mandel H, Braun J, El-Peleg O, et al (1991) Glutaric aciduria type I. Brain CT features and diagnostic pitfall. Neuroradiology 33: 75-78
    • (1991) Neuroradiology , vol.33 , pp. 75-78
    • Mandel, H.1    Braun, J.2    El-Peleg, O.3
  • 14
    • 0028991669 scopus 로고
    • Glutaric aciduria: Improved MR appearance after aggressive therapy
    • Cho HC, Mamourian AC, Filiano J, et al (1994) Glutaric aciduria: improved MR appearance after aggressive therapy. Pediatr Radiol 25: 484-485
    • (1994) Pediatr Radiol , vol.25 , pp. 484-485
    • Cho, H.C.1    Mamourian, A.C.2    Filiano, J.3
  • 15
    • 0024386405 scopus 로고
    • Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I
    • Iafolla AK, Kahler SG (1989) Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I. J Pediatr 114: 1004-1006
    • (1989) J Pediatr , vol.114 , pp. 1004-1006
    • Iafolla, A.K.1    Kahler, S.G.2
  • 16
    • 0025821557 scopus 로고
    • Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type I
    • Hald JK, Nakstad PH. Skjeldal OH, et al (1991) Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type I. AJNR 12: 407-409
    • (1991) AJNR , vol.12 , pp. 407-409
    • Hald, J.K.1    Nakstad, P.H.2    Skjeldal, O.H.3
  • 17
    • 0025954411 scopus 로고
    • Glutaric aciduria type I. MR findings in 2 cases
    • Altman NR, Roma MJ, Bauer M (1991) Glutaric aciduria type I. MR findings in 2 cases. AJNR 12: 966-968
    • (1991) AJNR , vol.12 , pp. 966-968
    • Altman, N.R.1    Roma, M.J.2    Bauer, M.3
  • 18
    • 0030781348 scopus 로고    scopus 로고
    • Glutaric aciduria type I (glutaryl-CoA-dehydrogenase deficiency): Advances and unanswered questions
    • Superti-Furga A, Hoffmann GF (1997) Glutaric aciduria type I (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Eur J Pediatr 156: 821-828
    • (1997) Eur J Pediatr , vol.156 , pp. 821-828
    • Superti-Furga, A.1    Hoffmann, G.F.2
  • 19
    • 0025762628 scopus 로고
    • Value of neuroimaging in metabolic diseases affecting the CNS
    • Naidu S, Moser HW (1991) Value of neuroimaging in metabolic diseases affecting the CNS. AJNR 12: 413-416
    • (1991) AJNR , vol.12 , pp. 413-416
    • Naidu, S.1    Moser, H.W.2
  • 20
    • 0023616609 scopus 로고
    • Glutaric aciduria type I: Clinical heterogeneity and neuroradiological features
    • Amir N, El-Peleg O, Shalev RS, et al (1987) Glutaric aciduria type I: clinical heterogeneity and neuroradiological features. Neurology 37: 1654-1657
    • (1987) Neurology , vol.37 , pp. 1654-1657
    • Amir, N.1    El-Peleg, O.2    Shalev, R.S.3
  • 21
    • 0024261514 scopus 로고
    • CT-scan findings in an infant with glutaric aciduria type I
    • Yager JY, McCarty BM, Shesia SS (1988) CT-scan findings in an infant with glutaric aciduria type I. Dev Med Child Neurol 30: 808-820
    • (1988) Dev Med Child Neurol , vol.30 , pp. 808-820
    • Yager, J.Y.1    McCarty, B.M.2    Shesia, S.S.3
  • 22
    • 0023185174 scopus 로고
    • A case of glutaric aciduria type I with unique abnormalities in the cerebral CT findings
    • Jamaguchi S, Orii T, Yasuda K, et al (1987) A case of glutaric aciduria type I with unique abnormalities in the cerebral CT findings. Tohoko J Exp Med 151: 293-299
    • (1987) Tohoko J Exp Med , vol.151 , pp. 293-299
    • Jamaguchi, S.1    Orii, T.2    Yasuda, K.3
  • 23
    • 0024558977 scopus 로고
    • Acute profound dystonia in infants with glutaric acidemia
    • Bergman I, Finegold D, Gartner JC, et al (1989) Acute profound dystonia in infants with glutaric acidemia. Pediatrics 83: 228-234
    • (1989) Pediatrics , vol.83 , pp. 228-234
    • Bergman, I.1    Finegold, D.2    Gartner, J.C.3
  • 24
    • 0024313207 scopus 로고
    • Early prenatal diagnosis in two pregnancies at risk for glutaryl-CoA dehydrogenase deficiency
    • Holme I, Kyllerman M, Lindstedt S (1989) Early prenatal diagnosis in two pregnancies at risk for glutaryl-CoA dehydrogenase deficiency. J Inher Metab Dis 12 [Suppl 2]: 280-282
    • (1989) J Inher Metab Dis , vol.12 , Issue.SUPPL. 2 , pp. 280-282
    • Holme, I.1    Kyllerman, M.2    Lindstedt, S.3
  • 25
    • 0027739677 scopus 로고
    • Congenital intracranial cysts: Clinical findings, diagnosis, treatment and follow-up. A multicenter. Retrospective longterm evaluation of 72 children
    • Bittel M, Ehrensberger J, Gysler R, et al (1993) Congenital intracranial cysts: clinical findings, diagnosis, treatment and follow-up. A multicenter. retrospective longterm evaluation of 72 children. Eur J Pediatr Surg 3: 323-334
    • (1993) Eur J Pediatr Surg , vol.3 , pp. 323-334
    • Bittel, M.1    Ehrensberger, J.2    Gysler, R.3
  • 26
    • 0023183062 scopus 로고
    • External hydrocephalus: Radiologic spectrum and differentiation from cerebral atrophy
    • Maytal J, Alvarez LA, Elkin CM, et al (1987) External hydrocephalus: radiologic spectrum and differentiation from cerebral atrophy. AJR 148: 1223-1230
    • (1987) AJR , vol.148 , pp. 1223-1230
    • Maytal, J.1    Alvarez, L.A.2    Elkin, C.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.