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Volumn 68, Issue 5, 2001, Pages 463-465

Ptosis in Late Infantile Tay-Sachs Disease

Author keywords

Gangliosidosis; Neurodegenerative disease; Ptosis; Tay Sachs disease

Indexed keywords

ARTICLE; BASAL GANGLION; CASE REPORT; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PRESCHOOL CHILD; PTOSIS; TAY SACHS DISEASE; THALAMUS;

EID: 0035345329     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02723030     Document Type: Article
Times cited : (2)

References (17)
  • 2
    • 0014497133 scopus 로고
    • G5-ganglioside variant of systemic late infantile lipidosis
    • Volk BW, Adachi M, Scheck L, Klienberg W. G5-ganglioside variant of systemic late infantile lipidosis. Arch Pathol 1969; 87 : 393-403.
    • (1969) Arch Pathol , vol.87 , pp. 393-403
    • Volk, B.W.1    Adachi, M.2    Scheck, L.3    Klienberg, W.4
  • 3
    • 0347286583 scopus 로고
    • Clinic, pathology and biochemistry of Tay-Sachs disease
    • Vinkyn PJ and Bruyn GW, eds. Amsterdam, North-Holland Publishing company
    • Volk W, Schneck L, Adachi. Clinic, pathology and biochemistry of Tay-Sachs disease. In Vinkyn PJ and Bruyn GW, eds. Handbook of Clinical Neurology. Amsterdam, North-Holland Publishing company, 1970; 385-426.
    • (1970) Handbook of Clinical Neurology , pp. 385-426
    • Volk, W.1    Schneck, L.2    Adachi3
  • 4
    • 0346656406 scopus 로고
    • Hexosaminidase a deficiency (Tay-Sachs disease) : A rare inborn error of ganglioside metabolism in India
    • Verma IC, ed. Pondicherry Auroma Enterprises
    • Kumta NB, Irani SF, Bhide AR, Punwami DV. Hexosaminidase A deficiency (Tay-Sachs disease) : A rare inborn error of ganglioside metabolism in India. In Verma IC, ed. Medical Genetics in India. Pondicherry Auroma Enterprises, 1978; 1 : 97-102.
    • (1978) Medical Genetics in India , vol.1 , pp. 97-102
    • Kumta, N.B.1    Irani, S.F.2    Bhide, A.R.3    Punwami, D.V.4
  • 6
    • 0028991047 scopus 로고
    • Enzyme studies in GM2 gangliosidosis,and their application in prenatal diagnosis
    • Kaur M, Verma IC. Enzyme studies in GM2 gangliosidosis,and their application in prenatal diagnosis. Indian J Pediatr 1995; 62 : 485-489.
    • (1995) Indian J Pediatr , vol.62 , pp. 485-489
    • Kaur, M.1    Verma, I.C.2
  • 7
    • 0029329347 scopus 로고
    • GM2 gangliosidoses : A review of cases confirmed by beta-N-acetylhexosaminidase assay
    • Christopher R, Rangaswamy GR, Shetty KT. GM2 gangliosidoses : A review of cases confirmed by beta-N-acetylhexosaminidase assay. Indian J Pediatr 1995; 62 : 479-83.
    • (1995) Indian J Pediatr , vol.62 , pp. 479-483
    • Christopher, R.1    Rangaswamy, G.R.2    Shetty, K.T.3
  • 8
    • 0347286582 scopus 로고    scopus 로고
    • Neurodegenerative disorders of childhood
    • Behrman RE, Kleigman RM, Jenson HB, eds. W.B. Philadelphia Saunders Company, USA
    • Haslam RHA. Neurodegenerative disorders of childhood. In Behrman RE, Kleigman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. 16th edn. W.B. Philadelphia Saunders Company, USA, 2000; 1848-1854.
    • (2000) Nelson Textbook of Pediatrics. 16th Edn. , pp. 1848-1854
    • Haslam, R.H.A.1
  • 9
    • 0346656405 scopus 로고
    • The megalencephalic phase of infantile amaurotic familial idiocy. Cephalometric and pneumoencephalographic studies
    • Aronson SM, Lewitan A, Rabiner AM, Epstein N, Volk BW.The megalencephalic phase of infantile amaurotic familial idiocy. Cephalometric and pneumoencephalographic studies. Arch Neurol Psychiat (Chic) 1958; 79 : 151-163.
    • (1958) Arch Neurol Psychiat (Chic) , vol.79 , pp. 151-163
    • Aronson, S.M.1    Lewitan, A.2    Rabiner, A.M.3    Epstein, N.4    Volk, B.W.5
  • 10
    • 0022589657 scopus 로고
    • Myoclonus in neuronal storage and Lafora diseases
    • Rapin I. Myoclonus in neuronal storage and Lafora diseases. Adv Neurol 1986; 43 : 65-85.
    • (1986) Adv Neurol , vol.43 , pp. 65-85
    • Rapin, I.1
  • 14
    • 0027527594 scopus 로고
    • Prenatal and postnatal studies of a late infantile GM2 gangliosidosis in a family of Syrian origin : A possible B1 variant
    • Shukry A, Goldman B, Shihab S, Peleg L. Prenatal and postnatal studies of a late infantile GM2 gangliosidosis in a family of Syrian origin : a possible B1 variant. Isr J Med Sci 1993; 22 : 623-628.
    • (1993) Isr J Med Sci , vol.22 , pp. 623-628
    • Shukry, A.1    Goldman, B.2    Shihab, S.3    Peleg, L.4
  • 15
    • 0018330617 scopus 로고
    • Biochemistry and genetics of gangliosidoses
    • Sandhoff K, Christomanou H. Biochemistry and genetics of gangliosidoses. Human Genet 1979; 50 : 107-143.
    • (1979) Human Genet , vol.50 , pp. 107-143
    • Sandhoff, K.1    Christomanou, H.2
  • 16
    • 0031714682 scopus 로고    scopus 로고
    • New therapeutic prospects for the glycosphingolipid lysosomal storage diseases
    • Platt FM, Butters TD. New therapeutic prospects for the glycosphingolipid lysosomal storage diseases. Biochem Pharmacol 1998; 56 : 421-430.
    • (1998) Biochem Pharmacol , vol.56 , pp. 421-430
    • Platt, F.M.1    Butters, T.D.2
  • 17
    • 0031820977 scopus 로고    scopus 로고
    • Glycosphingolipid degradation and animal models of GM2 gangliosidoses
    • Kolter T, Sandhoff K. Glycosphingolipid degradation and animal models of GM2 gangliosidoses. J Inherit Metab Dis 1998; 21 : 548-563.
    • (1998) J Inherit Metab Dis , vol.21 , pp. 548-563
    • Kolter, T.1    Sandhoff, K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.