Published in Histochemie on January 01, 1970
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
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int (2006) 1.65
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
Indigogenic methods for glycosidases. II. An improved method for beta-D-galactosidase and its application to localization studies of the enzymes in the intestine and in other tissues. Histochemie (1970) 1.41
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
Cytochemistry of enterocytes and of other cells in the mucous membrane of the small intestine. Biomembranes (1974) 1.25
New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J (2000) 1.22
Studies on glycyl-proline naphthylamidase. I. Lymphocytes. Histochemistry (1977) 1.06
Niemann-Pick disease type C. Study on the nature of the cerebral storage process. Acta Neuropathol (1985) 1.06
Studies on dipeptidyl(amino)peptidase IV (glycyl-proline naphthylamidase). II. Blood vessels. Histochemistry (1979) 1.04
Indigogenic methods for glycosidases. 3. An improved method with 4-Cl-5-Br-3-indolyl-beta-D-fucoside and its application in studies of enzymes in the intestine, kidney and other tissues. Histochemie (1971) 1.04
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
Study on dipeptidylpeptidase II (DPP II). Histochemistry (1980) 0.98
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
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
Study on aminopeptidase A. Histochemistry (1980) 0.93
Different expression of some molecular markers in sporadic cancer of the left and right colon. Eur J Cancer Prev (2000) 0.93
Phosphates of the naphthol AS series in the quantitative determination of alkaline and acid phosphatase activities "in situ" studied in polyacrylamide membrane model systems and by cytospectrophotometry. Histochemie (1967) 0.93
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
Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant). Pediatr Res (1985) 0.90
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. J Lipid Res (2000) 0.90
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder? J Inherit Metab Dis (2006) 0.88
Niemann-Pick disease: lipid storage in bone marrow macrophages. Histochem J (1983) 0.87
Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. Ann Hum Genet (2003) 0.87
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
Filipin test for diagnosis of Niemann-Pick disease type C. Sb Lek (1993) 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
Disaccharidases in celiac disease and mucoviscidosis. Some correlations between histological, histochemical and biochemical studies. Digestion (1972) 0.85
Studies in lipid histochemistry. XI. New, rapid, simple and selective method for the demonstration of phospholipids. Histochemie (1973) 0.84
The damaging effect of UV rays below 320 nm on the rabbit anterior eye segment. II. Enzyme histochemical changes and plasmin activity after prolonged irradiation. Acta Histochem (1995) 0.84
Effect of androgens on histochemical fibre type. Differentiation in the temporal muscle of the guinea pig. Histochemie (1970) 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. VI. Problems of extraction with acetone in lipid histochemistry. Histochemie (1971) 0.84
Intravascular ultrasound assessment of coronary artery involvement in Fabry disease. J Inherit Metab Dis (2008) 0.84
Meal eating and refeeding after a single fast as a stimulus for increasing the number of fat cells in abdominal adipose tissue of rats. Metabolism (1968) 0.83
A histochemical and ultrastructural study of stored material in neuronal ceroid lipofuscinosis. Virchows Arch B Cell Pathol (1978) 0.83
Histochemical demonstration of enterokinase. Histochemie (1972) 0.83
Niemann-Pick disease. Analysis of liver tissue in sphingomyelinase-deficient patients. Virchows Arch A Pathol Anat Histol (1980) 0.83
Dipeptidyl peptidase IV in patients with systemic lupus erythematosus. Clin Exp Rheumatol (1992) 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
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
Proteinases in pathology. Usefulness of histochemical methods. J Histochem Cytochem (1981) 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
The importance of protease histochemistry in pathology. Histochem J (1985) 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
Remarks on the "OTAN" reaction. Histochemie (1968) 0.81
Histochemistry of the human duodenal mucosa with special reference to the gradient of activities of the brush border enzymes. Scand J Gastroenterol Suppl (1979) 0.81
Neuropathology of various types of Niemann-Pick disease. Acta Neuropathol Suppl (1981) 0.81
An improved histochemical method for the demonstration of disaccharidases with natural substrates. Histochemie (1972) 0.81
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
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
Lipidosis with a predominant storage of phosphoglycerides (phospholipidosis type II--Baar, Wiedemann). Virchows Arch A Pathol Anat Histol (1975) 0.79
[Cholesterol ester storage disease (CESD)]. Cesk Pediatr (1984) 0.79
Activities of some oxidative and hydrolytic enzymes in musculus biceps brachii of rats after tonic stress. Histochemie (1973) 0.79
Ito cells in lysosomal storage disorders. An ultrastructural study. Virchows Arch B Cell Pathol Incl Mol Pathol (1984) 0.79
A histochemical method for the demonstration of acetylcholinesterase activity using semipermeable membranes. Histochemistry (1986) 0.79
Early histological and histochemical changes produced in the arterial wall of dogs by injecting blood clot. Pathol Microbiol (Basel) (1966) 0.79
Peripheral nervous system affection in experimental lipidosis induced by 4,4'-diethylaminoethoxyhexesterol. Virchows Arch B Cell Pathol (1977) 0.79
Aminopeptidases in the circumventricular organs of the mouse brain: a histochemical study. Neuroscience (1992) 0.79
Mitochondrial DNA depletion in Alpers syndrome. Neuropediatrics (2004) 0.79
Indigogenic methods for glycosidases. I. An improved method for beta-D-glucosidase and its application to localization studies on intestinal and renal enzymes. Histochemie (1970) 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
Synthetic substrates in the histochemical demonstration of intestinal disaccharidases. Histochemie (1973) 0.79
Histochemical study on xanthine oxidase activity in the normal rabbit cornea and lens and after repeated irradiation of the eye with UVB rays. Acta Histochem (1996) 0.79
Lactic dehydrogenase isoenzymes in the aortic wall. J Atheroscler Res (1966) 0.79
The unusually high activity of mitochondrial alpha-glycerophosphate dehydrogenase in Gaucher cells. Virchows Arch B Cell Pathol (1975) 0.78
Histochemical and ultrastructural study of Gaucher cells. Acta Neuropathol Suppl (1981) 0.78
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
Induction of dipeptidylpeptidase IV activity in human renal glomeruli--a histochemical study. Acta Histochem (1985) 0.78
Long-term action of potassium bromide on the rat thyroid gland. Acta Histochem (1998) 0.78
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. J Inherit Metab Dis (1997) 0.78
Histochemistry of proteases in ependyma, choroid plexus and leptomeninges. Histochemistry (1988) 0.78
A comparative study of lactase and sucrase-isomaltase activities and immunoreactivities in jejunal biopsies of patients suffering from the malabsorption syndrome. Histochem J (1984) 0.78
Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status. Biochim Biophys Acta (1997) 0.78
So-called neuronal ceroid-lipofuscinosis. Histochemical study with evidence of extractibility of the stored material. Acta Neuropathol (1977) 0.78
A xanthogranulomatous process encircling large blood vessels (Erdheim-Chester disease?). Czech Med (1988) 0.78
The damaging effect of UV rays (with the wavelength shorter than 320 nm) on the rabbit anterior eye segment. I. Early changes and their prevention by catalase-aprotinin application. Acta Histochem (1994) 0.78
Pleiomorphous histiocytic sarcoma arising in a patient with histiocytosis X. Neoplasma (1986) 0.77
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency. Virchows Arch (1996) 0.77
Enzyme patterns in human endocytotic multinucleate giant cells--a histochemical study. Acta Histochem (1986) 0.77
Histochemical observations of induction and depression of enzyme activities in various pathological conditions: personal experience. Histochem J (1984) 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
Chromatography and spectrofluorometry of brain fluorophores in neuronal ceroid lipofuscinosis (NCL). Mech Ageing Dev (1992) 0.77
Studies in lipid histochemistry. X. Lipids in paraffin sections. Histochemie (1973) 0.77
Liver findings in Niemann-Pick disease type C. Histochem J (1984) 0.77
Studies in lipid histochemistry. 8. Some problems of bromination particularly in relation to lipid histochemistry. Histochemie (1972) 0.77
[Jejunal mucosa in children with mucoviscidosis]. Cesk Patol (1975) 0.77