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Volumn 61, Issue 11, 2003, Pages 1611-1614

Skin biopsy in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; APOCRINE GLAND; ARTICLE; AXILLA; CELL TYPE; CHILD; CLINICAL ARTICLE; EPM2A GENE; FEMALE; GENE; GENE MUTATION; GENETIC CORRELATION; GENOTYPE; HUMAN; MALE; MYOCLONUS EPILEPSY; NERVE CELL; PHENOTYPE; PRIORITY JOURNAL; SKIN BIOPSY; SWEAT GLAND;

EID: 0344738648     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000096017.19978.CB     Document Type: Article
Times cited : (58)

References (10)
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    • (2001) Pediatr Neurol , vol.25 , pp. 21-29
    • Minassian, B.A.1
  • 2
    • 0019813663 scopus 로고
    • Sweat gland duct cells in Lafora disease: Diagnosis by skin biopsy
    • Carpenter S, Karpati G. Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy. Neurology 1981;31:1564-1568.
    • (1981) Neurology , vol.31 , pp. 1564-1568
    • Carpenter, S.1    Karpati, G.2
  • 5
    • 0015803531 scopus 로고
    • Glucose metabolism of the isolated eccrine sweat gland. II. The relation between glucose metabolism and sodium transport
    • Sato K, Dobson RL. Glucose metabolism of the isolated eccrine sweat gland. II. The relation between glucose metabolism and sodium transport. J Clin Invest 1973;52:2166-2174.
    • (1973) J Clin Invest , vol.52 , pp. 2166-2174
    • Sato, K.1    Dobson, R.L.2
  • 6
    • 0023134442 scopus 로고
    • Lactate and bicarbonate uptake in the sweat duct of cystic fibrosis and normal subjects
    • Bijman J, Quinton PM. Lactate and bicarbonate uptake in the sweat duct of cystic fibrosis and normal subjects. Pediatr Res 1987;21:79-82.
    • (1987) Pediatr Res , vol.21 , pp. 79-82
    • Bijman, J.1    Quinton, P.M.2
  • 8
    • 0029800090 scopus 로고    scopus 로고
    • Zonation of parenchymal and nonparenchymal metabolism in liver
    • Jungermann K, Kietzmann T. Zonation of parenchymal and nonparenchymal metabolism in liver. Annu Rev Nutr 1996;16:179-203.
    • (1996) Annu Rev Nutr , vol.16 , pp. 179-203
    • Jungermann, K.1    Kietzmann, T.2
  • 9
    • 0036254152 scopus 로고    scopus 로고
    • MCT2 is a major neuronal monocarboxylate transporter in the adult mouse brain
    • Pierre K, Magistretti PJ, Pellerin L. MCT2 is a major neuronal monocarboxylate transporter in the adult mouse brain. J Cereb Blood Flow Metab 2002;22:586-595.
    • (2002) J Cereb Blood Flow Metab , vol.22 , pp. 586-595
    • Pierre, K.1    Magistretti, P.J.2    Pellerin, L.3
  • 10
    • 0029086154 scopus 로고
    • Ultrastructural localization of alkaline phosphatase activity in human eccrine and apocrine sweat glands
    • Saga K, Morimoto Y. Ultrastructural localization of alkaline phosphatase activity in human eccrine and apocrine sweat glands. J Histochem Cytochem 1995;43:927-932.
    • (1995) J Histochem Cytochem , vol.43 , pp. 927-932
    • Saga, K.1    Morimoto, Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.