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Volumn 12, Issue 6, 1997, Pages 369-375

Aspartylglucosaminuria: Radiologic course of the disease with histopathologic correlation

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ASPARTYLGLYCOSAMINURIA; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; WHITE MATTER;

EID: 0030922924     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307389701200606     Document Type: Article
Times cited : (34)

References (21)
  • 1
    • 0027253317 scopus 로고
    • Early clinical symptoms and incidence of aspartylglucosaminuria in Finland
    • Arvio M, Autio S, Louhiala P: Early clinical symptoms and incidence of aspartylglucosaminuria in Finland. Acta Paediatr Scand 1993;82:587-589.
    • (1993) Acta Paediatr Scand , vol.82 , pp. 587-589
    • Arvio, M.1    Autio, S.2    Louhiala, P.3
  • 2
    • 0027193750 scopus 로고
    • Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions
    • Arvio M: Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions. Acta Paediatr Scand 1993; 82:469-471.
    • (1993) Acta Paediatr Scand , vol.82 , pp. 469-471
    • Arvio, M.1
  • 3
    • 0021677551 scopus 로고
    • Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21-4qter)
    • Aula P, Astrin KH, France U, Desnic RJ: Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21-4qter). Am J Hum Genet 1984;36: 1215-1224.
    • (1984) Am J Hum Genet , vol.36 , pp. 1215-1224
    • Aula, P.1    Astrin, K.H.2    France, U.3    Desnic, R.J.4
  • 4
    • 0025296690 scopus 로고
    • Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4
    • Grön K, Aula P, Peltonen L: Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4. Hum Genet 1990;85:233-236.
    • (1990) Hum Genet , vol.85 , pp. 233-236
    • Grön, K.1    Aula, P.2    Peltonen, L.3
  • 5
    • 0016152035 scopus 로고
    • The glycoasparagines in urine of a patient with aspartylglucosaminuria
    • Pollitt R, Pretty K: The glycoasparagines in urine of a patient with aspartylglucosaminuria. Biochem J 1974;141:141-146.
    • (1974) Biochem J , vol.141 , pp. 141-146
    • Pollitt, R.1    Pretty, K.2
  • 7
    • 0015838781 scopus 로고
    • Aspartylglucosaminuria. Deficiency of aspartylglucoasaminidase in cultured fibroplasts of patients and their heterozygous parents
    • Aula P, Näntö V, Laipio M-L, Autio S: Aspartylglucosaminuria. Deficiency of aspartylglucoasaminidase in cultured fibroplasts of patients and their heterozygous parents. Clin Genet 1973;4:297-300.
    • (1973) Clin Genet , vol.4 , pp. 297-300
    • Aula, P.1    Näntö, V.2    Laipio, M.-L.3    Autio, S.4
  • 8
    • 0026578477 scopus 로고
    • Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in Finland
    • Syvänen AC, Ikonen E, Manninen T, et al: Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in Finland. Genomics 1992;12:590-595.
    • (1992) Genomics , vol.12 , pp. 590-595
    • Syvänen, A.C.1    Ikonen, E.2    Manninen, T.3
  • 9
    • 0027163863 scopus 로고
    • Epileptic seizures in aspartylglucosaminuria; a common disorder
    • Arvio M, Oksanen V, Autio S, et al: Epileptic seizures in aspartylglucosaminuria; a common disorder. Acta Neurol Scand 1993;87: 342-344.
    • (1993) Acta Neurol Scand , vol.87 , pp. 342-344
    • Arvio, M.1    Oksanen, V.2    Autio, S.3
  • 10
    • 0016812561 scopus 로고
    • Aspartylglycosaminuria: A generalized storage disease. Morphological and histochemical studies
    • Haltia M, Palo J, Autio S: Aspartylglycosaminuria: A generalized storage disease. Morphological and histochemical studies. Acta Neuropathol (Berl) 1975;31:243-255.
    • (1975) Acta Neuropathol (Berl) , vol.31 , pp. 243-255
    • Haltia, M.1    Palo, J.2    Autio, S.3
  • 12
    • 0017586887 scopus 로고
    • Measurements of the normal ventricular system and hemispheric sulci of 100 adults with computed tomography
    • Gyldensted C: Measurements of the normal ventricular system and hemispheric sulci of 100 adults with computed tomography. Neuroradiology 1977;14:183-192.
    • (1977) Neuroradiology , vol.14 , pp. 183-192
    • Gyldensted, C.1
  • 13
    • 0001792841 scopus 로고
    • Normal development of the neonatal and infant brain, skull, and spine
    • Barcovich J (ed): New York, Raven Press
    • Barcovich J: Normal development of the neonatal and infant brain, skull, and spine, in Barcovich J (ed): Pediatric Neuroimaging. New York, Raven Press, 1995, pp 9-54.
    • (1995) Pediatric Neuroimaging , pp. 9-54
    • Barcovich, J.1
  • 14
    • 0028886936 scopus 로고
    • Gene therapy - A novel form of drug delivery
    • Blau H, Springer M: Gene therapy - a novel form of drug delivery. N Engl J Med 1995;18:1204-1207.
    • (1995) N Engl J Med , vol.18 , pp. 1204-1207
    • Blau, H.1    Springer, M.2
  • 16
    • 0015485284 scopus 로고
    • Aspartylglucosaminuria: Analysis of thirty-four patients
    • Autio S: Aspartylglucosaminuria: Analysis of thirty-four patients. J Ment Defic Res Monogr Series 1972;1:47.
    • (1972) J Ment Defic Res Monogr Series , vol.1 , pp. 47
    • Autio, S.1
  • 17
    • 0028101284 scopus 로고
    • Early differential diagnosis of the infantile neuronal ceroid lipofuscinosis, Krabbe's disease, and Rett syndrome by CT and MRI
    • Vanhanen S-L, Raininko R, Santavuori P: Early differential diagnosis of the infantile neuronal ceroid lipofuscinosis, Krabbe's disease, and Rett syndrome by CT and MRI. AJNR Am J Neuroradiol 1994;15:1443-1453.
    • (1994) AJNR Am J Neuroradiol , vol.15 , pp. 1443-1453
    • Vanhanen, S.-L.1    Raininko, R.2    Santavuori, P.3
  • 18
    • 0026611534 scopus 로고
    • Measurements of T1 and T2 over time in formalin-fixed human whole-brain specimens
    • Tovi M, Ericsson A: Measurements of T1 and T2 over time in formalin-fixed human whole-brain specimens. Acta Radiol 1992; 33:400-404.
    • (1992) Acta Radiol , vol.33 , pp. 400-404
    • Tovi, M.1    Ericsson, A.2
  • 19
    • 0008005094 scopus 로고
    • Toxic and metabolic brain disorders
    • Barcovich J (ed): New York, Raven Press
    • Barcovich J: Toxic and metabolic brain disorders, in Barcovich J (ed): Pediatric Neuroimaging. New York, Raven Press, 1995, pp 55-105.
    • (1995) Pediatric Neuroimaging , pp. 55-105
    • Barcovich, J.1
  • 20
    • 0026535709 scopus 로고
    • Jansky-Bielschowsky variant disease: CT, MRI, and SPECT findings
    • Autti T, Raininko R, Launes J, et al: Jansky-Bielschowsky variant disease: CT, MRI, and SPECT findings. Pediatr Neurol 1992;2: 121-126.
    • (1992) Pediatr Neurol , vol.2 , pp. 121-126
    • Autti, T.1    Raininko, R.2    Launes, J.3
  • 21
    • 0028843964 scopus 로고
    • MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients
    • Vanhanen S-L, Raininko R, Autti T, Santavuori P: MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients. J Child Neurol 1995;10:444-450.
    • (1995) J Child Neurol , vol.10 , pp. 444-450
    • Vanhanen, S.-L.1    Raininko, R.2    Autti, T.3    Santavuori, P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.