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Volumn 102, Issue 3, 2004, Pages 174-175

Sialidosis type 1 (cherry red spot-myoclonus syndrome)

Author keywords

Autosomal recessive; Cherry red spot in the macula; Myoclonic jerk; Sialidosis type 1 or cherry red spot myoclonus syndrome (CRSM)

Indexed keywords

ANTICONVULSIVE AGENT;

EID: 4344692317     PISSN: 00195847     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (5)

References (9)
  • 1
    • 0001477956 scopus 로고    scopus 로고
    • Progressive neurometabolic brain disease
    • Brett EM, editor. New York: Churchill Livingstone
    • Brett EM, Lake BD - Progressive neurometabolic brain disease. In: Brett EM, editor. Pediatric Neurology. 3rd ed. New York: Churchill Livingstone, 1997: 143-99.
    • (1997) Pediatric Neurology. 3rd Ed. , pp. 143-199
    • Brett, E.M.1    Lake, B.D.2
  • 2
    • 0025771331 scopus 로고
    • Sialidosis type 1: First report in the Indian population. A clinical, biochemical and electrophysiological study
    • Bhigjee AI, Seebaran AR, Petersen EM, Bill PL - Sialidosis type 1: first report in the Indian population. A clinical, biochemical and electrophysiological study. Clin Neurol Neurosurg 1991; 93: 115-8.
    • (1991) Clin Neurol Neurosurg , vol.93 , pp. 115-118
    • Bhigjee, A.I.1    Seebaran, A.R.2    Petersen, E.M.3    Bill, P.L.4
  • 3
    • 4344640063 scopus 로고    scopus 로고
    • Sialidosis
    • Behrman RE, Kliegman RM, Arvin AM, editors. Philadelphia: WB Saunders Co
    • Haslam RHA - Sialidosis. In: Behrman RE, Kliegman RM, Arvin AM, editors. Nelson Textbook of Pediatrics. Book 2. 15th ed. Philadelphia: WB Saunders Co, 1996: 1726-7.
    • (1996) Nelson Textbook of Pediatrics. Book 2. 15th Ed. , pp. 1726-1727
    • Haslam, R.H.A.1
  • 4
    • 0018346760 scopus 로고
    • Sialidosis: A review of human neuraminidase deficiency
    • Lowdon JA, O'Brien JS - Sialidosis: a review of human neuraminidase deficiency. Am J Hum Genet 1979; 31: 1-18.
    • (1979) Am J Hum Genet , vol.31 , pp. 1-18
    • Lowdon, J.A.1    O'Brien, J.S.2
  • 5
    • 0016919076 scopus 로고
    • 2 gangliosidosis. A typical spinocerebellar degeneration in a Jewish sibship
    • 2 gangliosidosis. A typical spinocerebellar degeneration in a Jewish sibship. Arch Neurol 1976; 33: 120-30.
    • (1976) Arch Neurol , vol.33 , pp. 120-130
    • Rapin, I.1    Suzuki, K.2    Valsamin, M.P.3
  • 7
    • 0017816110 scopus 로고
    • The cherry red spot-myoclonus syndrome: A newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency
    • O'Brien JS - The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency. Clin Genet 1978; 14: 55-60.
    • (1978) Clin Genet , vol.14 , pp. 55-60
    • O'Brien, J.S.1
  • 8
    • 0018330537 scopus 로고
    • Sialidosis type 1: Cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins
    • Thomas PK, Abrahams JD, Swallow D, Stewart G - Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. J Neurol Neurosurg Psychiatry 1979; 42: 873-80.
    • (1979) J Neurol Neurosurg Psychiatry , vol.42 , pp. 873-880
    • Thomas, P.K.1    Abrahams, J.D.2    Swallow, D.3    Stewart, G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.