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Results: 1-17 |
Results: 17
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation
Authors: Hulkova, H Cervenkova, M Ledvinova, J Tochackova, M Hrebicek, M Poupetova, H Befekadu, A Berna, L Paton, BC Harzer, K Boor, A Smid, F Elleder, M
Citation: H. Hulkova et al., A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation, HUM MOL GEN, 10(9), 2001, pp. 927-940
Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease(second complementation group). Report of a case
Authors: Elleder, M Houstkova, H Zeman, J Ledvinova, J Poupetova, H
Citation: M. Elleder et al., Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease(second complementation group). Report of a case, VIRCHOWS AR, 439(2), 2001, pp. 206-211
Cardiac manifestations in Fabry disease
Authors: Linhart, A Lubanda, JC Palecek, T Bultas, J Karetova, D Ledvinova, J Elleder, M Aschermann, M
Citation: A. Linhart et al., Cardiac manifestations in Fabry disease, J INH MET D, 24, 2001, pp. 75-83
Autofluorescence of melanins induced by ultraviolet radiation and near ultraviolet light. A histochemical and biochemical study
Authors: Elleder, M Borovansky, J
Citation: M. Elleder et J. Borovansky, Autofluorescence of melanins induced by ultraviolet radiation and near ultraviolet light. A histochemical and biochemical study, HISTOCHEM J, 33(5), 2001, pp. 273-281
X-ray structure analysis of an mutant of human gamma-D-crystallin: A unique cataract phenotype explained by protein crystallography
Authors: Brynda, J Kmoch, S Awsav, B Bezouska, K Novak, P Rezacova, P Ondrova, L Filipec, M Elleder, M Sedlacek, J
Citation: J. Brynda et al., X-ray structure analysis of an mutant of human gamma-D-crystallin: A unique cataract phenotype explained by protein crystallography, CHEM LISTY, 95(1), 2001, pp. 47-47
Niemann-Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
Authors: Millat, G Chikh, K Naureckiene, S Sleat, DE Fensom, AH Higaki, K Elleder, M Lobel, P Vanier, MT
Citation: G. Millat et al., Niemann-Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group, AM J HU GEN, 69(5), 2001, pp. 1013-1021
Link between a novel human gamma D-crystallin allele and a unique cataractphenotype explained by protein crystallography
Authors: Kmoch, S Brynda, J Asfaw, B Bezouska, K Novak, P Rezacova, P Ondrova, L Filipec, M Sedlacek, J Elleder, M
Citation: S. Kmoch et al., Link between a novel human gamma D-crystallin allele and a unique cataractphenotype explained by protein crystallography, HUM MOL GEN, 9(12), 2000, pp. 1779-1786
Testis - a novel storage site in human cholesteryl ester storage disease -Autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma
Authors: Elleder, M Chlumska, A Ledvinova, J Poupetova, H
Citation: M. Elleder et al., Testis - a novel storage site in human cholesteryl ester storage disease -Autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma, VIRCHOWS AR, 436(1), 2000, pp. 82-87
Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer
Authors: Elleder, M Chlumska, A Hyanek, J Poupetova, H Ledvinova, J Maas, S Lohse, P
Citation: M. Elleder et al., Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer, J HEPATOL, 32(3), 2000, pp. 528-534
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease
Authors: Lohse, P Maas, S Lohse, P Elleder, M Kirk, JM Besley, GTN Seidel, D
Citation: P. Lohse et al., Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease, J LIPID RES, 41(1), 2000, pp. 23-31
New insights in cardiac structural changes in patients with Fabry's disease
Authors: Linhart, A Palecek, T Bultas, J Ferguson, JJ Hrudova, J Karetova, D Zeman, J Ledvinova, J Poupetova, H Elleder, M Aschermann, M
Citation: A. Linhart et al., New insights in cardiac structural changes in patients with Fabry's disease, AM HEART J, 139(6), 2000, pp. 1101-1108
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency
Authors: Wang, L Ou, X Sebesta, I Vondrak, K Krijt, J Elleder, M Poupetova, H Ledvinova, J Zeman, J Simmonds, HA Tischfield, JA Sahota, A
Citation: L. Wang et al., Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency, MOL GEN MET, 68(1), 1999, pp. 78-85
Definitions of the ultrastructural patterns found in NCL
Authors: Elleder, M Lake, BD Goebel, HH Rapola, J Haltia, M Carpenter, S
Citation: M. Elleder et al., Definitions of the ultrastructural patterns found in NCL, BIOM HLTH R, 33, 1999, pp. 5-15
Variant late infantile/early juvenile NCL
Authors: Williams, RE Lake, BD Elleder, M Sharp, JD
Citation: Re. Williams et al., Variant late infantile/early juvenile NCL, BIOM HLTH R, 33, 1999, pp. 102-113
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency
Authors: Obenberger, J Seidl, Z Pavlu, H Elleder, M
Citation: J. Obenberger et al., MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency, NEURORADIOL, 41(3), 1999, pp. 182-184
Attempts to induce melanosome degradation in vivo
Authors: Borovansky, J Hach, P Smetana, K Elleder, M Matous-Malbohan, I
Citation: J. Borovansky et al., Attempts to induce melanosome degradation in vivo, FOL BIOL, 45(2), 1999, pp. 47-52
Mucolipidosis type II with evidence of a novel storage site
Authors: Elleder, M Martin, JJ
Citation: M. Elleder et Jj. Martin, Mucolipidosis type II with evidence of a novel storage site, VIRCHOWS AR, 433(6), 1998, pp. 575-578
Risultati: 1-17 |