메뉴 건너뛰기




Volumn 95, Issue 3, 1998, Pages 306-312

Atypical juvenile neuronal ceroid liposfuscinosis with granular osmiophilic deposit-like inclusions in the autonomic nerve cells of the gut wall

Author keywords

Atypical neuronal ceroid lipofuscinosis; Granular osmiophilic deposits; Juvenile neuronal ceroid lipofuscinosis

Indexed keywords

ALCOHOL; OSMIUM; OXAZEPAM;

EID: 2642671126     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010050803     Document Type: Article
Times cited : (16)

References (31)
  • 2
    • 0029947923 scopus 로고    scopus 로고
    • MRI of neuronal ceroid lipofuscinosis. I. Cranial MRT of 30 patients with juvenile neuronal ceroid lipofuscinosis
    • Autti T, Raininko R, Vanhanen SL, Santavuori P (1996) MRI of neuronal ceroid lipofuscinosis. I. Cranial MRT of 30 patients with juvenile neuronal ceroid lipofuscinosis. Neuroradiology 38:476-482
    • (1996) Neuroradiology , vol.38 , pp. 476-482
    • Autti, T.1    Raininko, R.2    Vanhanen, S.L.3    Santavuori, P.4
  • 3
    • 0015547256 scopus 로고
    • A type of junvenile cerebromacular degeneration characterized by granular osmiophilic deposits
    • Carpenter S, Karpati G, Wolfe LS, Andermann F (1973) A type of junvenile cerebromacular degeneration characterized by granular osmiophilic deposits. J Neurol Sci 18:67-68
    • (1973) J Neurol Sci , vol.18 , pp. 67-68
    • Carpenter, S.1    Karpati, G.2    Wolfe, L.S.3    Andermann, F.4
  • 4
    • 0029075391 scopus 로고
    • Classification of the neuronal ceroid-lipofuscinoses: Expansion of the atypical forms
    • Dyken P, Wisniewski K (1995) Classification of the neuronal ceroid-lipofuscinoses: expansion of the atypical forms. Am J Med Genet 57:150-154
    • (1995) Am J Med Genet , vol.57 , pp. 150-154
    • Dyken, P.1    Wisniewski, K.2
  • 6
    • 0028879016 scopus 로고
    • The neuronal ceroid-lipofuscinoses
    • Goebel HH (1995) The neuronal ceroid-lipofuscinoses. J Child Neurol 10:424-437
    • (1995) J Child Neurol , vol.10 , pp. 424-437
    • Goebel, H.H.1
  • 7
    • 0029048726 scopus 로고
    • Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD)
    • Hofman IL, Taschner PE (1995) Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD). Am J Med Genet 57: 165-167
    • (1995) Am J Med Genet , vol.57 , pp. 165-167
    • Hofman, I.L.1    Taschner, P.E.2
  • 8
    • 0030051312 scopus 로고    scopus 로고
    • Fetal alcohol syndrome: Craniotacial and central nervous system manifestations
    • Johnson VP, Swayze VW II, Sato Y, Andreasen NC (1996) Fetal alcohol syndrome: craniotacial and central nervous system manifestations. Am J Med Genet 61:329-339
    • (1996) Am J Med Genet , vol.61 , pp. 329-339
    • Johnson, V.P.1    Swayze II, V.W.2    Sato, Y.3    Andreasen, N.C.4
  • 11
    • 0030201075 scopus 로고    scopus 로고
    • Efficient construction of a physical map by Fiber-FlSH of the CLN5 region: Refined assignment and long-range contig covering the critical region on 13q22
    • Klockars T, Savukoski M, Isosomppi J, Laan M, Järvelä I, Petrukhin K, Palotie A, Peltonen L (1996) Efficient construction of a physical map by Fiber-FlSH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22. Genomics 35:71-78
    • (1996) Genomics , vol.35 , pp. 71-78
    • Klockars, T.1    Savukoski, M.2    Isosomppi, J.3    Laan, M.4    Järvelä, I.5    Petrukhin, K.6    Palotie, A.7    Peltonen, L.8
  • 12
    • 0017887981 scopus 로고
    • Early-juvenile Batten's disease - A recognizable sub-group distinct from other forms of Batten's disease
    • Lake BD. Cavanagh NPC (1978) Early-juvenile Batten's disease - a recognizable sub-group distinct from other forms of Batten's disease. J Neurol Sci 36:265-271
    • (1978) J Neurol Sci , vol.36 , pp. 265-271
    • Lake, B.D.1    Cavanagh, N.P.C.2
  • 13
    • 0025325491 scopus 로고
    • Ultrastructural study of the skin in a case of juvenile neuronal ceroid-lipofuscinosis
    • Manca V, Kanitakis J, Zambruno G, Thivolet J, Gonnaud PM (1990) Ultrastructural study of the skin in a case of juvenile neuronal ceroid-lipofuscinosis. Am J Dermatopathol 12:412-416
    • (1990) Am J Dermatopathol , vol.12 , pp. 412-416
    • Manca, V.1    Kanitakis, J.2    Zambruno, G.3    Thivolet, J.4    Gonnaud, P.M.5
  • 15
  • 17
    • 0029068066 scopus 로고
    • New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy
    • Philippart M, Chugani HT, Bateman JB (1995) New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy. Am J Med Genet 57:160-164
    • (1995) Am J Med Genet , vol.57 , pp. 160-164
    • Philippart, M.1    Chugani, H.T.2    Bateman, J.B.3
  • 19
    • 0027517038 scopus 로고
    • Neuronal ceroid-lipofuscinoses in childhood
    • Landing BH, Haust MD, Bernstein J, Rosenberg HS (eds). Basel, Karger
    • Rapola J (1993) Neuronal ceroid-lipofuscinoses in childhood. In: Landing BH, Haust MD, Bernstein J, Rosenberg HS (eds) Genetic metabolic diseases. Perspectives in pediatric pathology, vol 17. Basel, Karger, pp 7-44
    • (1993) Genetic Metabolic Diseases. Perspectives in Pediatric Pathology , vol.17 , pp. 7-44
    • Rapola, J.1
  • 20
    • 0021741191 scopus 로고
    • Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid lipofuscinoses
    • Rapola J, Santavuori P, Savilahti E (1984) Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid lipofuscinoses. Hum Pathol 15:352-360
    • (1984) Hum Pathol , vol.15 , pp. 352-360
    • Rapola, J.1    Santavuori, P.2    Savilahti, E.3
  • 22
    • 0025736263 scopus 로고
    • The spectrum of Jansky-Bielschwosky disease
    • Santavuori P (1991) The spectrum of Jansky-Bielschwosky disease. Neuropediatrics 22:92-96
    • (1991) Neuropediatrics , vol.22 , pp. 92-96
    • Santavuori, P.1
  • 25
    • 0027279119 scopus 로고
    • Early juvenile neuronal ceroidlipofuscinosis or variant Janksy-Bielschowsky disease: Diagnostic criteria and nomenclature
    • Santavuon P, Rapola J, Raininko R, Autti T, Lappi M, Nuutila A, Launes J, Sainio K (1993) Early juvenile neuronal ceroidlipofuscinosis or variant Janksy-Bielschowsky disease: diagnostic criteria and nomenclature. J Inherit Metab Dis 16:230-232
    • (1993) J Inherit Metab Dis , vol.16 , pp. 230-232
    • Santavuon, P.1    Rapola, J.2    Raininko, R.3    Autti, T.4    Lappi, M.5    Nuutila, A.6    Launes, J.7    Sainio, K.8
  • 30
    • 0029147298 scopus 로고
    • Isolation of a novel gene underlying Batten disease
    • The International Batten Disease Consortium (1995) Isolation of a novel gene underlying Batten disease. Cell 82:949-957
    • (1995) Cell , vol.82 , pp. 949-957


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.