메뉴 건너뛰기




Volumn 20, Issue 5, 2005, Pages 255-260

Macrocephaly the first manifestation of glutaric aciduria type I: The importance of early diagnosis;Macrocefalia como forma de presentación de la aciduria glutárica tipo 1. Importancia de un diagnóstico precoz

Author keywords

Diagnosis; Glutaric aciduria type I; Macrocephaly; Magnetic resonance imaging; Treatment

Indexed keywords

ACIDURIA; ARTICLE; CASE REPORT; GENETIC ANALYSIS; HUMAN; INFANT; LABORATORY TEST; MACROCEPHALY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION;

EID: 22144493880     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (12)

References (23)
  • 2
    • 0033875134 scopus 로고    scopus 로고
    • Glutaryl-Co A dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically and biochemically distinct
    • Busquets C, Merinero B, Christensen E, Gelpi JL, Campistol J, Pineda M, et al. Glutaryl-Co A dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically and biochemically distinct. Pediatr Res 2000;48:315-22.
    • (2000) Pediatr Res , vol.48 , pp. 315-322
    • Busquets, C.1    Merinero, B.2    Christensen, E.3    Gelpi, J.L.4    Campistol, J.5    Pineda, M.6
  • 3
    • 0028239839 scopus 로고
    • Assignment of human glutaryl-CoA dehydrognase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridisation and somatic cell hybrid analysis
    • Greenberg CR, Duncan AMV, Gregory CA, Singal R, Goodman SI. Assignment of human glutaryl-CoA dehydrognase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridisation and somatic cell hybrid analysis. Genomics 1994;21: 289-90.
    • (1994) Genomics , vol.21 , pp. 289-290
    • Greenberg, C.R.1    Duncan, A.M.V.2    Gregory, C.A.3    Singal, R.4    Goodman, S.I.5
  • 4
    • 0030781348 scopus 로고    scopus 로고
    • Glutaric aciduria type I (glutaril-CoA dehydrogenase deficiency): Advances and unanswered questions. Report from an international meeting
    • Superti-Furga A, Hoffmann GH. Glutaric aciduria type I (glutaril-CoA dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting. Eur J Pediatr 1997;156:821-28.
    • (1997) Eur J Pediatr , vol.156 , pp. 821-828
    • Superti-Furga, A.1    Hoffmann, G.H.2
  • 5
  • 6
    • 0042881933 scopus 로고    scopus 로고
    • Disorders of lysine catabolism and related cerebral organic acid disorders
    • Fernandes J, Saudubray JM, Van den Berghe G, editores. Berlin: Springer-Verlag
    • Hoffmann GF. Disorders of lysine catabolism and related cerebral organic acid disorders. En: Fernandes J, Saudubray JM, Van den Berghe G, editores. Inborn metabolic diseases: diagnosis and treatment, 3rd ed. Berlin: Springer-Verlag, 2000; p. 243-53.
    • (2000) Inborn Metabolic Diseases: Diagnosis and Treatment, 3rd Ed. , pp. 243-253
    • Hoffmann, G.F.1
  • 7
    • 0026316639 scopus 로고
    • Glutaric aciduria type I: A common cause of episodic encephalopathy and spactic paralysis in the Amish of Lancaster country, Pennsylvania
    • Morton DH, Bennett MJ, Seargeant LE, Nichter LA, Kelley RI. Glutaric aciduria type I: a common cause of episodic encephalopathy and spactic paralysis in the Amish of Lancaster country, Pennsylvania. Am J Med Genet 1991;41:89-95.
    • (1991) Am J Med Genet , vol.41 , pp. 89-95
    • Morton, D.H.1    Bennett, M.J.2    Seargeant, L.E.3    Nichter, L.A.4    Kelley, R.I.5
  • 9
    • 0026074570 scopus 로고
    • Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian indian kindreds
    • Haworth JC, Booth FA, Chudley AE, deGroot GW, Dilling LA, Goodman SI, et al. Phenotypic variability in glutaric aciduria type I: report of fourteen cases in five Canadian indian kindreds. J Pediatr 1991;118:52-8.
    • (1991) J Pediatr , vol.118 , pp. 52-58
    • Haworth, J.C.1    Booth, F.A.2    Chudley, A.E.3    DeGroot, G.W.4    Dilling, L.A.5    Goodman, S.I.6
  • 10
    • 0035169420 scopus 로고    scopus 로고
    • Aciduria glutarica tipo I: Una acidemia orgánica sin acidosis y con graves trastornos del movimiento
    • Prats JM. Aciduria glutarica tipo I: una acidemia orgánica sin acidosis y con graves trastornos del movimiento. Neurología 2001; 16:337-41.
    • (2001) Neurología , vol.16 , pp. 337-341
    • Prats, J.M.1
  • 11
    • 0028069436 scopus 로고
    • Dystonia and dyskinesia in glutaric aciduria type I. Clinical heterogenity and therapeutic considerations
    • Kyllerman M, Skjeldal OH, Lundberg M, Holme I, Jellum E, von Dobeln U, et al. Dystonia and dyskinesia in glutaric aciduria type I. Clinical heterogenity and therapeutic considerations. Mov Disord 1994;9:22-30.
    • (1994) Mov Disord , vol.9 , pp. 22-30
    • Kyllerman, M.1    Skjeldal, O.H.2    Lundberg, M.3    Holme, I.4    Jellum, E.5    Von Dobeln, U.6
  • 12
    • 0024400683 scopus 로고
    • Glutaric aciduria type I: Enzymatic and neuroradiological investigations of two kindreds
    • Amir N, Elpeleg ON, Shalev RS, Christensen E. Glutaric aciduria type I: enzymatic and neuroradiological investigations of two kindreds. J Pediatr 1989;14:983-9.
    • (1989) J Pediatr , vol.14 , pp. 983-989
    • Amir, N.1    Elpeleg, O.N.2    Shalev, R.S.3    Christensen, E.4
  • 13
    • 0024386405 scopus 로고
    • Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I
    • Iafolla AK, Khaler SG. Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I. J Pediatr 1989;114:1004-6.
    • (1989) J Pediatr , vol.114 , pp. 1004-1006
    • Iafolla, A.K.1    Khaler, S.G.2
  • 16
    • 0033043304 scopus 로고    scopus 로고
    • Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy
    • Hoffmann GF, Zschocke J. Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy. J Inherit Metab Dis 1999;22:381-91.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 381-391
    • Hoffmann, G.F.1    Zschocke, J.2
  • 18
    • 0032585736 scopus 로고    scopus 로고
    • Sensitivity and specificity of free and total glutaric acid and 3-hydroxiglutaric acids measurements by stable isotope dilution assays for the diagnosis of glutaric aciduria type I
    • Baric I, Wagner L, Feyh P, Liesert M, Buckel W, Hoffman GF. Sensitivity and specificity of free and total glutaric acid and 3-hydroxiglutaric acids measurements by stable isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis 1999;22:867-82.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 867-882
    • Baric, I.1    Wagner, L.2    Feyh, P.3    Liesert, M.4    Buckel, W.5    Hoffman, G.F.6
  • 19
    • 0028964466 scopus 로고
    • CT and MR in the brain of glutamic acidemia type I: A review of 59 published cases and report of 5 new patients
    • Brismar J, Ozand PT. CT and MR in the brain of glutamic acidemia type I: a review of 59 published cases and report of 5 new patients. Am J Neuroradiol 1995;16:675-83.
    • (1995) Am J Neuroradiol , vol.16 , pp. 675-683
    • Brismar, J.1    Ozand, P.T.2
  • 20
    • 2442646639 scopus 로고    scopus 로고
    • Long-term follow-up, neurological outcome and survival rate in 28 nordic patients with glutaric aciduria type 1
    • Kyllerman M, Skjeldal O, Christensen E, Hagberg G, Holme E, Lonnquist T, et al. Long-term follow-up, neurological outcome and survival rate in 28 nordic patients with glutaric aciduria type 1. Eur J Paediatr Neurol 2004;8:121-9.
    • (2004) Eur J Paediatr Neurol , vol.8 , pp. 121-129
    • Kyllerman, M.1    Skjeldal, O.2    Christensen, E.3    Hagberg, G.4    Holme, E.5    Lonnquist, T.6
  • 21
    • 0034120821 scopus 로고    scopus 로고
    • Prevention of cerebral palsy in glutaric aciduria type I by dietary management
    • Monavari AA, Naughten ER. Prevention of cerebral palsy in glutaric aciduria type I by dietary management. Arch Dis Child 2000;82:67-70.
    • (2000) Arch Dis Child , vol.82 , pp. 67-70
    • Monavari, A.A.1    Naughten, E.R.2
  • 22
    • 0035131250 scopus 로고    scopus 로고
    • Acute encephalophathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme a dehydrogenase gene
    • Kolker S, Ramaekers VT, Zschocke J, Hoffmann GF. Acute encephalophathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene. J Pediatr 2001;138:277-9.
    • (2001) J Pediatr , vol.138 , pp. 277-279
    • Kolker, S.1    Ramaekers, V.T.2    Zschocke, J.3    Hoffmann, G.F.4
  • 23
    • 1342321670 scopus 로고    scopus 로고
    • Diagnóstico temprano de enfermedades neurometabólicas por espectrometria de masas en tándem. Perfil de acilcarnitinas en la sangre del cordón umbilical
    • Osorio JH, Pourfarzam M. Diagnóstico temprano de enfermedades neurometabólicas por espectrometria de masas en tándem. Perfil de acilcarnitinas en la sangre del cordón umbilical. Rev Neurol 2004;38:11-6.
    • (2004) Rev Neurol , vol.38 , pp. 11-16
    • Osorio, J.H.1    Pourfarzam, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.