Published in Virchows Arch B Cell Pathol on November 30, 1977
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science (1997) 6.66
[The isolated form of cardiac amyloidosis in the form of beginning infiltrative cardiomyopathy without restrictive physiology]. Vnitr Lek (2008) 2.05
Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography. Hum Mol Genet (2000) 1.93
Neuroaxonal dystrophy in man: character and natural history. Acta Neuropathol (1971) 1.89
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int (2006) 1.65
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol (1990) 1.62
Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene. Acta Paediatr (2004) 1.55
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Am J Hum Genet (2001) 1.38
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. J Inherit Metab Dis (2005) 1.36
New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J (2000) 1.22
Neurotropic activity of a strain of Listeria innocua in suckling mice. Zentralbl Bakteriol Orig A (1979) 1.21
Niemann-Pick disease type C. Study on the nature of the cerebral storage process. Acta Neuropathol (1985) 1.06
Cardiac manifestations in Fabry disease. J Inherit Metab Dis (2001) 1.02
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 Genet (2001) 1.02
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 (1986) 0.96
Lex glycosphingolipids-mediated cell aggregation. Glycobiology (1998) 0.95
Niemann-Pick disease (variation in the sphingomyelinase deficient group). Neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings. Eur J Pediatr (1983) 0.95
Different expression of some molecular markers in sporadic cancer of the left and right colon. Eur J Cancer Prev (2000) 0.93
Type A influenza: postmortem virus isolations from different organs in human lethal cases. Arch Virol (1977) 0.92
Prolonged methanol fixation of soluble mucosubstances in mucopolysaccharidoses. Histochemistry (1976) 0.91
Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin Nephrol (2010) 0.91
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. J Lipid Res (2000) 0.90
Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant). Pediatr Res (1985) 0.90
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder? J Inherit Metab Dis (2006) 0.88
Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. Ann Hum Genet (2003) 0.87
Niemann-Pick disease: lipid storage in bone marrow macrophages. Histochem J (1983) 0.87
Filipin test for diagnosis of Niemann-Pick disease type C. Sb Lek (1993) 0.86
Biological properties of surface components of Listeria monocytogenes (Ei factor). J Hyg Epidemiol Microbiol Immunol (1974) 0.86
Idiopathic myelofibrosis complicated by portal hypertension treated with a transjugular intrahepatic portosystemic shunt (TIPS). Wien Klin Wochenschr (2001) 0.86
Niemann-Pick Disease. Report on a symposium held in Hlava's Institute of Pathology, Charles University, Prague 2nd-3rd September, 1982. Acta Univ Carol Med (Praha) (1983) 0.86
Light microscopic visualization of peroxisomes and plasmalogens in first trimester chorionic villi. Prenat Diagn (1987) 0.86
Fabry's disease: absence of storage as a feature of liver sinus endothelium. Acta Histochem (1985) 0.85
Studies in lipid histochemistry. VI. Problems of extraction with acetone in lipid histochemistry. Histochemie (1971) 0.84
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. Hum Mol Genet (2010) 0.84
Studies in lipid histochemistry. XI. New, rapid, simple and selective method for the demonstration of phospholipids. Histochemie (1973) 0.84
Intravascular ultrasound assessment of coronary artery involvement in Fabry disease. J Inherit Metab Dis (2008) 0.84
Niemann-Pick disease. Analysis of liver tissue in sphingomyelinase-deficient patients. Virchows Arch A Pathol Anat Histol (1980) 0.83
A histochemical and ultrastructural study of stored material in neuronal ceroid lipofuscinosis. Virchows Arch B Cell Pathol (1978) 0.83
Post-mortem findings and clinical signs of dimethyl mercury poisoning in man. Int Arch Arbeitsmed (1974) 0.83
Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process. J Inherit Metab Dis (2009) 0.82
Histochemical detection of GM1 ganglioside using cholera toxin-B subunit. Evaluation of critical factors optimal for in situ detection with special emphasis to acetone pre-extraction. Eur J Histochem (2010) 0.82
A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelin. J Inherit Metab Dis (1986) 0.82
Studies in lipid histochemistry. XII. Histochemical detection of sphingomyelin. Histochemie (1973) 0.82
Niemann-Pick disease type C with enhanced glycolipid storage. Report on further case of so-called lactosylceramidosis. Virchows Arch A Pathol Anat Histopathol (1984) 0.82
Interstitial lymphocytic myocarditis in Whipple's disease. Lancet (1991) 0.82
Neuropathology of various types of Niemann-Pick disease. Acta Neuropathol Suppl (1981) 0.81
Remarks on the "OTAN" reaction. Histochemie (1968) 0.81
Membranocystic lesion in the brain in cerebrotendinous xanthomatosis. Histochemical and ultrastructural study with evidence of its ceroid nature. Virchows Arch B Cell Pathol Incl Mol Pathol (1989) 0.81
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy. J Inherit Metab Dis (2008) 0.80
New enzymatic findings in infantile neuroaxonal dystrophy. Acta Neuropathol (1983) 0.80
Culture of macrophage cell lines from normal mouse bone marrow. Nature (1982) 0.80
[Cholesterol ester storage disease (CESD)]. Cesk Pediatr (1984) 0.79
Mitochondrial DNA depletion in Alpers syndrome. Neuropediatrics (2004) 0.79
Lipidosis with a predominant storage of phosphoglycerides (phospholipidosis type II--Baar, Wiedemann). Virchows Arch A Pathol Anat Histol (1975) 0.79
Ito cells in lysosomal storage disorders. An ultrastructural study. Virchows Arch B Cell Pathol Incl Mol Pathol (1984) 0.79
[Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family]. Cas Lek Cesk (1999) 0.79
Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria. J Inherit Metab Dis (1994) 0.78
Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts. J Lipid Res (1998) 0.78
A xanthogranulomatous process encircling large blood vessels (Erdheim-Chester disease?). Czech Med (1988) 0.78
Histochemical and ultrastructural study of Gaucher cells. Acta Neuropathol Suppl (1981) 0.78
The unusually high activity of mitochondrial alpha-glycerophosphate dehydrogenase in Gaucher cells. Virchows Arch B Cell Pathol (1975) 0.78
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. J Inherit Metab Dis (1997) 0.78
So-called neuronal ceroid-lipofuscinosis. Histochemical study with evidence of extractibility of the stored material. Acta Neuropathol (1977) 0.78
Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status. Biochim Biophys Acta (1997) 0.78
Acute cricopharyngeal obstruction in dermatomyositis. J Rheumatol (1988) 0.78
Induction of dipeptidylpeptidase IV activity in human renal glomeruli--a histochemical study. Acta Histochem (1985) 0.78
Cerebral ceroidosis in albinos. Pathol Eur (1968) 0.78
Lactosylceramide in lysosomal storage disorders: a comparative immunohistochemical and biochemical study. Virchows Arch (2005) 0.77
Liver findings in Niemann-Pick disease type C. Histochem J (1984) 0.77
Histochemical observations of induction and depression of enzyme activities in various pathological conditions: personal experience. Histochem J (1984) 0.77
Enzyme patterns in human endocytotic multinucleate giant cells--a histochemical study. Acta Histochem (1986) 0.77
Chromatography and spectrofluorometry of brain fluorophores in neuronal ceroid lipofuscinosis (NCL). Mech Ageing Dev (1992) 0.77
[Duxon--a new Czechoslovak--made infusion solution--an experimental contribution to biological evaluation]. Cas Lek Cesk (1980) 0.77
Niemann-Pick disease (Crocker's type C): A histological study of the distribution and qualitative differences fo the storage process. Acta Neuropathol (1975) 0.77
Studies in lipid histochemistry. 8. Some problems of bromination particularly in relation to lipid histochemistry. Histochemie (1972) 0.77
Studies in lipid histochemistry. X. Lipids in paraffin sections. Histochemie (1973) 0.77
Lysosomal non-lipid component of Gaucher's cells. Virchows Arch B Cell Pathol (1977) 0.77
Comments about the paper C.W.M. Adams and O.B. Bayliss reappraisal of osmium tetroxide and OTAN histochemical reactions. Histochemie (1968) 0.77
Mutagenicity of glycerol chlorohydrines and of their esters with higher fatty acids present in protein hydrolysates. Mutat Res (1982) 0.77
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency. Virchows Arch (1996) 0.77
Pleiomorphous histiocytic sarcoma arising in a patient with histiocytosis X. Neoplasma (1986) 0.77
[Progressive multifocal leukoencephalopathy in a female patient after kidney transplantation]. Vnitr Lek (1998) 0.77