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Volumn 24, Issue 4, 1999, Pages 481-489

Lipid changes in Niemann-Pick disease type C brain: Personal experience and review of the literature

Author keywords

Cerebroside; Cholesterol; Ganglioside; Glucosylceramide; Lactosylceramide; Niemann Pick disease; Sphingomyelin

Indexed keywords

CEREBROSIDE; CHOLESTEROL; GANGLIOSIDE; GLUCOSYLCERAMIDE; LACTOSYLCERAMIDE; SPHINGOMYELIN;

EID: 0032892536     PISSN: 03643190     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1022575511354     Document Type: Article
Times cited : (171)

References (59)
  • 3
    • 0031983861 scopus 로고    scopus 로고
    • Recent advances in elucidating Niemann-Pick C disease
    • Vanier, M.T., and Suzuki, K. 1998. Recent advances in elucidating Niemann-Pick C disease. Brain Path. 8:163-174.
    • (1998) Brain Path. , vol.8 , pp. 163-174
    • Vanier, M.T.1    Suzuki, K.2
  • 6
    • 0028330236 scopus 로고
    • Complementation studies in Niemann-Pick disease type C indicate the existence of a second group
    • Steinberg, S.J., Ward, C.P., and Fensom, A.H. 1994. Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. J. Med. Genet. 31:317-320.
    • (1994) J. Med. Genet. , vol.31 , pp. 317-320
    • Steinberg, S.J.1    Ward, C.P.2    Fensom, A.H.3
  • 7
    • 0029655528 scopus 로고    scopus 로고
    • Genetic heterogeneity in Niemann-Pick C disease: A study using somatic cell hybridization and linkage analysis
    • Vanier, M.T., Duthel, S., Rodriguez, L.C., Pentchev, P., and Carstea, E.D. 1996. Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am. J. Hum. Genet. 58:118-125.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 118-125
    • Vanier, M.T.1    Duthel, S.2    Rodriguez, L.C.3    Pentchev, P.4    Carstea, E.D.5
  • 9
    • 0001962445 scopus 로고
    • The cerebral defect in Tay-Sachs disease and Niemann-Pick disease
    • Crocker, A.C. 1961. The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. J. Neurochem. 7:68-80.
    • (1961) J. Neurochem. , vol.7 , pp. 68-80
    • Crocker, A.C.1
  • 13
    • 0344281885 scopus 로고
    • Histological and biochemical findings in juvenile Niemann-Pick disease
    • Oppenheimer, D.R., Norman, R.M., Tingey, A.H., and Aherne, W.A. 1967. Histological and biochemical findings in juvenile Niemann-Pick disease. J. Neurol. Sci. 5:575-588.
    • (1967) J. Neurol. Sci. , vol.5 , pp. 575-588
    • Oppenheimer, D.R.1    Norman, R.M.2    Tingey, A.H.3    Aherne, W.A.4
  • 14
  • 15
    • 0014480882 scopus 로고
    • Niemann-Pick disease. Morphologic and biochemical studies in the visceral form with late central nervous system involvement (Crocker's group C)
    • Philippart, M., Martin, L., Martin, J.J., and Menkes, J.H. 1969. Niemann-Pick disease. Morphologic and biochemical studies in the visceral form with late central nervous system involvement (Crocker's group C). Arch. Neurol. 20:227-238.
    • (1969) Arch. Neurol. , vol.20 , pp. 227-238
    • Philippart, M.1    Martin, L.2    Martin, J.J.3    Menkes, J.H.4
  • 16
    • 0015745808 scopus 로고
    • Brain lipids of a case of juvenile Niemann-Pick disease
    • Tjiong, H.B., Seng, P.N., Debuch, H., and Wiedemann, H.R. 1973. Brain lipids of a case of juvenile Niemann-Pick disease. J. Neurochem. 21:1475-1485.
    • (1973) J. Neurochem. , vol.21 , pp. 1475-1485
    • Tjiong, H.B.1    Seng, P.N.2    Debuch, H.3    Wiedemann, H.R.4
  • 17
    • 0017475067 scopus 로고
    • Niemann-Pick disease type D: Lipid analyses and studies on sphingomyelinases
    • Rao, B.G., and Spence, M.W. 1977. Niemann-Pick disease type D: lipid analyses and studies on sphingomyelinases. Ann. Neurol. 1:385-392.
    • (1977) Ann. Neurol. , vol.1 , pp. 385-392
    • Rao, B.G.1    Spence, M.W.2
  • 18
    • 0018449303 scopus 로고
    • Forme infantile précoce, cholestatique, rapidement mortelle de la sphingomyelinose de type C. a propos de deux observations
    • Guibaud, P., Vanier, M.T., Malpuech, G., Gaulme, J., Houllemare, R., Goddon, R., and Rousson, R. 1979. Forme infantile précoce, cholestatique, rapidement mortelle de la sphingomyelinose de type C. A propos de deux observations. Pédiatrie. 43:103-114.
    • (1979) Pédiatrie. , vol.43 , pp. 103-114
    • Guibaud, P.1    Vanier, M.T.2    Malpuech, G.3    Gaulme, J.4    Houllemare, R.5    Goddon, R.6    Rousson, R.7
  • 19
    • 0021017225 scopus 로고
    • Niemann-Pick disease type C with enhanced glycolipid storage. Report on further case of so-called lactosylceramidosis
    • Elleder, M., Jirasek, A., Smid, F., Ledvinova, J., Besley, G.T., and Stopekova, M. 1984. Niemann-Pick disease type C with enhanced glycolipid storage. Report on further case of so-called lactosylceramidosis. Virchows Archiv A Pathol. Anat. 402:307-317.
    • (1984) Virchows Archiv a Pathol. Anat. , vol.402 , pp. 307-317
    • Elleder, M.1    Jirasek, A.2    Smid, F.3    Ledvinova, J.4    Besley, G.T.5    Stopekova, M.6
  • 20
    • 0021830120 scopus 로고
    • Niemann-Pick disease type C. Study on the nature of the cerebral storage process
    • Elleder, M., Jirasek, A., Smid, F., Ledvinova, J., and Besley, G.T. 1985. Niemann-Pick disease type C. Study on the nature of the cerebral storage process. Acta Neuropathol. 66:325-336.
    • (1985) Acta Neuropathol. , vol.66 , pp. 325-336
    • Elleder, M.1    Jirasek, A.2    Smid, F.3    Ledvinova, J.4    Besley, G.T.5
  • 21
    • 0022596839 scopus 로고
    • Enzyme activities and phospholipid storage patterns in brain and spleen samples from Niemann-Pick disease variants: A comparison of neuropathic and non-neuropathic forms
    • Besley, G.T., and Elleder, M. 1986. Enzyme activities and phospholipid storage patterns in brain and spleen samples from Niemann-Pick disease variants: a comparison of neuropathic and non-neuropathic forms. J. Inherit. Metab. Dis. 9:59-71.
    • (1986) J. Inherit. Metab. Dis. , vol.9 , pp. 59-71
    • Besley, G.T.1    Elleder, M.2
  • 22
    • 0009294796 scopus 로고
    • Pathophysiological approach of Niemann-Pick disease type C; definition of a biochemical heterogeneity and reevaluation of the lipid storage process
    • R. Salvayre, L. Douste-Blazy, S. Gatt, (ed.) New York: Plenum Press
    • Vanier, M.T., Pentchev, P.G., and Rousson, R. 1988. Pathophysiological approach of Niemann-Pick disease type C; definition of a biochemical heterogeneity and reevaluation of the lipid storage process, pages 175-185, in R. Salvayre, L. Douste-Blazy, S. Gatt, (ed.) Lipid Storage Disorders: Biological and Medical Aspects, New York: Plenum Press.
    • (1988) Lipid Storage Disorders: Biological and Medical Aspects , pp. 175-185
    • Vanier, M.T.1    Pentchev, P.G.2    Rousson, R.3
  • 23
    • 0024440501 scopus 로고
    • Niemann-Pick disease
    • Elleder, M. 1989. Niemann-Pick disease. Path Res Pract. 185:293-328.
    • (1989) Path Res Pract. , vol.185 , pp. 293-328
    • Elleder, M.1
  • 24
    • 0345144229 scopus 로고
    • Niemann-Pick disease in infancy. Report of two siblings with clinical, histologic and chemical studies
    • Ivemark, B., Svennerholm, L., Thoren, C., and Tunell, R. 1963. Niemann-Pick disease in infancy. Report of two siblings with clinical, histologic and chemical studies. Acta Paediatrica. 52:391-404.
    • (1963) Acta Paediatrica. , vol.52 , pp. 391-404
    • Ivemark, B.1    Svennerholm, L.2    Thoren, C.3    Tunell, R.4
  • 25
    • 17444442800 scopus 로고
    • Eine Gangliosidstoffwechselstörung mit Anhäufung von Ceramid-lactosid, Monosialo-Ceramid-Lactosid und Tay-Sachs-Gangliosid im Gehirn
    • Pilz, H., Sandhoff, K., and Jatzkewitz, H. 1966. Eine Gangliosidstoffwechselstörung mit Anhäufung von Ceramid-lactosid, Monosialo-Ceramid-Lactosid und Tay-Sachs-Gangliosid im Gehirn. J. Neurochem. 13:1273-1282.
    • (1966) J. Neurochem. , vol.13 , pp. 1273-1282
    • Pilz, H.1    Sandhoff, K.2    Jatzkewitz, H.3
  • 26
    • 0015480898 scopus 로고
    • Glycosphingolipid levels in an unusual neurovisceral storage disease characterized by lactosylceramide galactosylhydrolase deficiency: Lactosylceramidosis
    • Dawson, G. 1972. Glycosphingolipid levels in an unusual neurovisceral storage disease characterized by lactosylceramide galactosylhydrolase deficiency: lactosylceramidosis. J. Lipid Res. 13:207-219.
    • (1972) J. Lipid Res. , vol.13 , pp. 207-219
    • Dawson, G.1
  • 27
  • 28
    • 0015504366 scopus 로고
    • The distribution of lipids in the human nervous system. II-Lipid composition of human foetal and infant brain
    • Svennerholm, L., and Vanier, M.T. 1972. The distribution of lipids in the human nervous system. II-Lipid composition of human foetal and infant brain. Brain Res. 47:457-468.
    • (1972) Brain Res. , vol.47 , pp. 457-468
    • Svennerholm, L.1    Vanier, M.T.2
  • 29
    • 0015737451 scopus 로고
    • The distribution of lipids in the human nervous system. V-Gangliosides and allied neutral glycolipids in infant brain
    • Vanier, M.T., Holm, M., Månsson, J.E., and Svennerholm, L. 1973. The distribution of lipids in the human nervous system. V-Gangliosides and allied neutral glycolipids in infant brain. J. Neurochem. 21:1375-1384.
    • (1973) J. Neurochem. , vol.21 , pp. 1375-1384
    • Vanier, M.T.1    Holm, M.2    Månsson, J.E.3    Svennerholm, L.4
  • 30
    • 0018821962 scopus 로고
    • Krabbe disease: A galactosylsphingosine (psychosine) lipidosis
    • Svennerholm, L., Vanier, M.T., and Månsson, J.E. 1980. Krabbe disease: a galactosylsphingosine (psychosine) lipidosis. J. Lipid Res. 21:53-64.
    • (1980) J. Lipid Res. , vol.21 , pp. 53-64
    • Svennerholm, L.1    Vanier, M.T.2    Månsson, J.E.3
  • 32
    • 0021711534 scopus 로고
    • Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C)
    • Martin, J.J., Lowenthal, A., Ceuterick, C., and Vanier, M.T. 1984. Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C). J. Neurol. Sci. 66:33-45.
    • (1984) J. Neurol. Sci. , vol.66 , pp. 33-45
    • Martin, J.J.1    Lowenthal, A.2    Ceuterick, C.3    Vanier, M.T.4
  • 33
    • 33847517624 scopus 로고
    • The use of Sephadex for the removal of nonlipid contaminants from lipid extracts
    • Wells, M.A., and Dittmer, J.C. 1963. The use of Sephadex for the removal of nonlipid contaminants from lipid extracts. Biochemistry. 6:3169-3175.
    • (1963) Biochemistry. , vol.6 , pp. 3169-3175
    • Wells, M.A.1    Dittmer, J.C.2
  • 34
    • 0015488013 scopus 로고
    • Gangliosides of human, bovine and rabbit plasma
    • Yu, R.K., and Ledeen, R.W. 1972. Gangliosides of human, bovine and rabbit plasma. J. Lipid Res. 13:680-686.
    • (1972) J. Lipid Res. , vol.13 , pp. 680-686
    • Yu, R.K.1    Ledeen, R.W.2
  • 35
    • 0013904115 scopus 로고
    • Separation of gluco and galactocerebrosides by means of borate thin-layer chromatography
    • Kean, E.L. 1966. Separation of gluco and galactocerebrosides by means of borate thin-layer chromatography. J. Lipid Res. 7:449-452.
    • (1966) J. Lipid Res. , vol.7 , pp. 449-452
    • Kean, E.L.1
  • 36
    • 0015026124 scopus 로고
    • Quantitative isolation of total glycosphingolipids from animal cells
    • Saito, T., and Hakomori, S.I. 1971. Quantitative isolation of total glycosphingolipids from animal cells. J. Lipid Res. 12:257-259.
    • (1971) J. Lipid Res. , vol.12 , pp. 257-259
    • Saito, T.1    Hakomori, S.I.2
  • 38
    • 0002914268 scopus 로고
    • The quantitative estimation of neutral blood serum glycolipids by thin-layer chromatography
    • Svennerholm, L. 1956. The quantitative estimation of neutral blood serum glycolipids by thin-layer chromatography. J. Neurochem. 1:42-53.
    • (1956) J. Neurochem. , vol.1 , pp. 42-53
    • Svennerholm, L.1
  • 39
    • 0032934036 scopus 로고    scopus 로고
    • Sphingosylphosphorylcholine in Niemann-Pick disease brain: Accumulation in type a but not in type B
    • Rodriguez-Lafrasse, C., and Vanier, M.T. 1999. Sphingosylphosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not in type B. Neurochem. Res. 24:199-205.
    • (1999) Neurochem. Res. , vol.24 , pp. 199-205
    • Rodriguez-Lafrasse, C.1    Vanier, M.T.2
  • 40
    • 33847512700 scopus 로고
    • Heterogeneity and special features of the storage process in Niemann-Pick disease
    • R. Salvayre, L. Douste-Blazy, S. Gatt, (ed.) New York: Plenum Press
    • Elleder, M. 1988. Heterogeneity and special features of the storage process in Niemann-Pick disease, pages 141-161, in R. Salvayre, L. Douste-Blazy, S. Gatt, (ed.) Lipid Storage Disorders. Biological and Medical Aspects, New York: Plenum Press.
    • (1988) Lipid Storage Disorders. Biological and Medical Aspects , pp. 141-161
    • Elleder, M.1
  • 41
    • 0024539791 scopus 로고
    • The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts
    • Liscum, L., Ruggiero, R.M., and Faust, J.R. 1989. The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts. J. Cell Biol. 108:1625-1636.
    • (1989) J. Cell Biol. , vol.108 , pp. 1625-1636
    • Liscum, L.1    Ruggiero, R.M.2    Faust, J.R.3
  • 43
    • 0028801536 scopus 로고
    • Cholesterol for synthesis of myelin is made locally, not imported into brain
    • Jurevics, H., and Morell, P. 1995. Cholesterol for synthesis of myelin is made locally, not imported into brain. J. Neurochem. 64:895-901.
    • (1995) J. Neurochem. , vol.64 , pp. 895-901
    • Jurevics, H.1    Morell, P.2
  • 44
    • 0024474453 scopus 로고
    • Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media
    • Thomas, G.H., Tuck Muller, C.M., Miller, C.S., and Reynolds, L.W. 1989. Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media. J. Inherit. Metab. Dis. 12:139-151.
    • (1989) J. Inherit. Metab. Dis. , vol.12 , pp. 139-151
    • Thomas, G.H.1    Tuck Muller, C.M.2    Miller, C.S.3    Reynolds, L.W.4
  • 46
    • 0018141763 scopus 로고
    • Neurovisceral lipidosis compatible with Niemann-Pick disease type C: Morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family
    • Harzer, K., Scholte, W., Peiffer, J., Benz, H.U., and Anzil, A.P. 1978. Neurovisceral lipidosis compatible with Niemann-Pick disease type C: morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family. Acta Neuropathol. 43:97-104.
    • (1978) Acta Neuropathol. , vol.43 , pp. 97-104
    • Harzer, K.1    Scholte, W.2    Peiffer, J.3    Benz, H.U.4    Anzil, A.P.5
  • 47
    • 0023879638 scopus 로고
    • Niemann-Pick disease group C: Clinical variability and diagnosis based on defective cholesterol esterification. a collaborative study on 70 patients
    • Vanier, M.T., Wenger, D.A., Comly, M.E., Rousson, R., Brady, R.O., and Pentchev, P.G. 1988. Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients. Clin. Genet. 33:331-348.
    • (1988) Clin. Genet. , vol.33 , pp. 331-348
    • Vanier, M.T.1    Wenger, D.A.2    Comly, M.E.3    Rousson, R.4    Brady, R.O.5    Pentchev, P.G.6
  • 48
    • 0015271625 scopus 로고
    • Über eine infantil-juvenile, Subchronisch verlaufende, den sphingomyelinosen (Niemann-Pick) anzureihende Form der Lipidosen - Ein neuer Typ? Klinis-ehe, pathohistologische, elektronenmikroskopische und biochemische Untersuchungen
    • Wiedemann, H.R., Debuch, H., Lennert, K., Caesar, R., Blumcke, S., Harms, D., Tolksdorf, M., Seng, P.N., Korenke, H.D., Gerken, H., Freitag, F., and Dorner, K. 1972. Über eine infantil-juvenile, Subchronisch verlaufende, den sphingomyelinosen (Niemann-Pick) anzureihende Form der Lipidosen - ein neuer Typ? Klinis-ehe, pathohistologische, elektronenmikroskopische und biochemische Untersuchungen. Z. Kinderheilkd. 112:187-225.
    • (1972) Z. Kinderheilkd. , vol.112 , pp. 187-225
    • Wiedemann, H.R.1    Debuch, H.2    Lennert, K.3    Caesar, R.4    Blumcke, S.5    Harms, D.6    Tolksdorf, M.7    Seng, P.N.8    Korenke, H.D.9    Gerken, H.10    Freitag, F.11    Dorner, K.12
  • 49
    • 0016191491 scopus 로고
    • Unusual glycolipids in brain cortex of a visceral lipidosis (Niemann-Pick disease?)
    • Kannan, R., Tjiong, H.B., Debuch, H., and Wiedemann, H.R. 1974. Unusual glycolipids in brain cortex of a visceral lipidosis (Niemann-Pick disease?). Hoppe Seylers Z. Physiol. Chem. 355:551-556.
    • (1974) Hoppe Seylers Z. Physiol. Chem. , vol.355 , pp. 551-556
    • Kannan, R.1    Tjiong, H.B.2    Debuch, H.3    Wiedemann, H.R.4
  • 50
    • 0015051382 scopus 로고
    • Developmental profiles of gangliosides in human and rat brain
    • Vanier, M.T., Holm, M., Öhman, R., and Svennerholm, L. 1971. Developmental profiles of gangliosides in human and rat brain. J. Neurochem. 18:581-592.
    • (1971) J. Neurochem. , vol.18 , pp. 581-592
    • Vanier, M.T.1    Holm, M.2    Öhman, R.3    Svennerholm, L.4
  • 51
    • 0027264799 scopus 로고
    • Fetal Niemann-Pick disease type C: Ultrastructural and lipid findings in liver and spleen
    • Dumontel, C., Girod, C., Dijoud, F., Dumez, Y., and Vanier, M.T. 1993. Fetal Niemann-Pick disease type C: ultrastructural and lipid findings in liver and spleen. Virchows Archiv A Pathol Anat. 422:253-259.
    • (1993) Virchows Archiv a Pathol Anat. , vol.422 , pp. 253-259
    • Dumontel, C.1    Girod, C.2    Dijoud, F.3    Dumez, Y.4    Vanier, M.T.5
  • 52
    • 0018095841 scopus 로고
    • Neurochemistry of the mucopolysaccharidoses: Brain lipids and lysosomal enzymes in patients with four types of mucopolysaccharidosis and normal controls
    • Costantopoulos, G., and Dekaban, A.S. 1978. Neurochemistry of the mucopolysaccharidoses: brain lipids and lysosomal enzymes in patients with four types of mucopolysaccharidosis and normal controls. J. Neurochem. 30:965-973.
    • (1978) J. Neurochem. , vol.30 , pp. 965-973
    • Costantopoulos, G.1    Dekaban, A.S.2
  • 53
    • 0021365069 scopus 로고
    • Abnormalities of glycosphingolipids in mucopolysaccharidosis type IIIB
    • Hara, A., Kitazawa, N., and Taketomi, T. 1984. Abnormalities of glycosphingolipids in mucopolysaccharidosis type IIIB. J. Lipid Res. 25:175-184.
    • (1984) J. Lipid Res. , vol.25 , pp. 175-184
    • Hara, A.1    Kitazawa, N.2    Taketomi, T.3
  • 54
    • 0014497188 scopus 로고
    • Infantile Niemann-Pick disease. a chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin
    • Kamoshita, S., Aron, A.M., and Suzuki, K. 1969. Infantile Niemann-Pick disease. A chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin. Am. J. Dis. Child. 117:379-394.
    • (1969) Am. J. Dis. Child. , vol.117 , pp. 379-394
    • Kamoshita, S.1    Aron, A.M.2    Suzuki, K.3
  • 55
    • 0015865311 scopus 로고
    • Altered levels of tissue glycoproteins, gangliosides, glycosaminoglycans and lipids in Niemann-Pick's disease
    • Brunngraber, E.G., Berra, B., and Zambotti, V. 1973. Altered levels of tissue glycoproteins, gangliosides, glycosaminoglycans and lipids in Niemann-Pick's disease. Clin. Chim. Acta. 48:173-181.
    • (1973) Clin. Chim. Acta. , vol.48 , pp. 173-181
    • Brunngraber, E.G.1    Berra, B.2    Zambotti, V.3
  • 56
    • 0020320060 scopus 로고
    • Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease
    • Nilsson, O., and Svennerholm, L. 1982. Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J. Neurochem. 39:709-718.
    • (1982) J. Neurochem. , vol.39 , pp. 709-718
    • Nilsson, O.1    Svennerholm, L.2
  • 57
    • 0031973893 scopus 로고    scopus 로고
    • Cellular pathology of lysosomal storage disorders
    • Walkley, S.U. 1998. Cellular pathology of lysosomal storage disorders. Brain Path. 8:175-193.
    • (1998) Brain Path. , vol.8 , pp. 175-193
    • Walkley, S.U.1
  • 58
    • 0020658595 scopus 로고
    • Biochemical studies in Niemann-Pick disease. I- Major sphingolipids of liver and spleen
    • Vanier, M.T. 1983. Biochemical studies in Niemann-Pick disease. I- Major sphingolipids of liver and spleen. Biochim. Biophys. Acta. 750:178-184.
    • (1983) Biochim. Biophys. Acta. , vol.750 , pp. 178-184
    • Vanier, M.T.1
  • 59
    • 0032568565 scopus 로고    scopus 로고
    • Abnormal transport along the lysosomal pathway in mucolipidosis type IV disease
    • Chen, C.-S., Bach, G., and Pagano, R.E. 1998. Abnormal transport along the lysosomal pathway in mucolipidosis type IV disease. Proc. Natl. Acad. Sci. 95:6373-6378.
    • (1998) Proc. Natl. Acad. Sci. , vol.95 , pp. 6373-6378
    • Chen, C.-S.1    Bach, G.2    Pagano, R.E.3


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