Published in Cesk Patol on March 01, 1986
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
Measles lymphadenopathy. Ultrastruct Pathol (1981) 1.47
[Dexrazoxane in patients with B-lymphomas or acute leukemias in the 2nd complete remission enables further therapy with cardiotoxic anthracyclines over recommended cumulative doses]. Vnitr Lek (2004) 1.39
[Clinical spectrum of the antiphospholipid syndrome]. Cas Lek Cesk (1997) 1.39
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
Niemann-Pick disease type C. Study on the nature of the cerebral storage process. Acta Neuropathol (1985) 1.06
Discontinuities (gaps) of the glomerular capillary wall and basement membrane in renal diseases. Lab Invest (1973) 1.02
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
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
Genetic risk factors for diabetic nephropathy on chromosomes 6p and 7q identified by the set-association approach. Diabetologia (2007) 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
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
Cytokines and adhesion molecules in renal vasculitis and lupus nephritis. Nephrol Dial Transplant (1998) 0.90
Detection of early onset neonatal hypocalcaemia in low birth weight infants by Q-Tc and Q-oTc interval measurement. Acta Paediatr Acad Sci Hung (1980) 0.89
Functional polymorphism in the gelatinase B gene and asthma. Allergy (2000) 0.88
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder? J Inherit Metab Dis (2006) 0.88
Polymorphisms 1704G/T and 2184A/G in the RAGE gene are associated with antioxidant status. Metabolism (2001) 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
Urinary isoamylases in juvenile diabetics. J Clin Chem Clin Biochem (1978) 0.86
Filipin test for diagnosis of Niemann-Pick disease type C. Sb Lek (1993) 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
Influence of plasma exchange on serum levels of cytokines and adhesion molecules in ANCA-positive renal vasculitis. Blood Purif (1998) 0.85
Fabry's disease: absence of storage as a feature of liver sinus endothelium. Acta Histochem (1985) 0.85
Multiple fibroepithelial polyps of the upper ureter in a 17-year-old boy--case report and review of the literature. Eur J Pediatr Surg (2004) 0.85
Studies in lipid histochemistry. XI. New, rapid, simple and selective method for the demonstration of phospholipids. Histochemie (1973) 0.84
Clinical features and natural history of IgA nephropathy. Ann Med Interne (Paris) (1999) 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
Transjugular renal biopsy. Our experience with 67 cases. Kidney Blood Press Res (2001) 0.84
Prevalence of endothelial nitric oxide synthase gene polymorphisms in patients with atopic asthma. Clin Exp Allergy (2002) 0.83
ICRF-187 (dexrazoxan) protects from adriamycin-induced nephrotic syndrome in rats. Nephrol Dial Transplant (1998) 0.83
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
An association of BMI with A (-6) G, M235T and T174M polymorphisms in angiotensinogen gene in essential hypertension. J Hum Hypertens (2002) 0.83
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
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
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
Studies in lipid histochemistry. XII. Histochemical detection of sphingomyelin. Histochemie (1973) 0.82
Neuropathology of various types of Niemann-Pick disease. Acta Neuropathol Suppl (1981) 0.81
Congenital-infantile fibrosarcoma: a clinicopathological study of five patients entered on the Prague children's tumor registry. Pathol Res Pract (1996) 0.81
Remarks on the "OTAN" reaction. Histochemie (1968) 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
[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
Lipidosis with a predominant storage of phosphoglycerides (phospholipidosis type II--Baar, Wiedemann). Virchows Arch A Pathol Anat Histol (1975) 0.79
Recurrence of nephrotic proteinuria in children with focal segmental glomerulosclerosis after renal transplantation treated with plasmapheresis and immunoadsorption: case reports. Transplant Proc (2007) 0.79
Ito cells in lysosomal storage disorders. An ultrastructural study. Virchows Arch B Cell Pathol Incl Mol Pathol (1984) 0.79
[Cholesterol ester storage disease (CESD)]. Cesk Pediatr (1984) 0.79
Random and continuous-access immunoassays with chemiluminescent detection by Access automated analyzer. Clin Chem (1994) 0.79
Binding sites for carrier-immobilized carbohydrates in the kidney: implication for the pathogenesis of Henoch-Schönlein purpura and/or IgA nephropathy. Nephrol Dial Transplant (1999) 0.79
Peripheral nervous system affection in experimental lipidosis induced by 4,4'-diethylaminoethoxyhexesterol. Virchows Arch B Cell Pathol (1977) 0.79
Mitochondrial DNA depletion in Alpers syndrome. Neuropediatrics (2004) 0.79
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 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
Long-term treatment of IgA nephropathy with cyclosporin A--a preliminary report. Nephrol Dial Transplant (1997) 0.78
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. J Inherit Metab Dis (1997) 0.78
Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status. Biochim Biophys Acta (1997) 0.78
Induction of dipeptidylpeptidase IV activity in human renal glomeruli--a histochemical study. Acta Histochem (1985) 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
Enzyme patterns in human endocytotic multinucleate giant cells--a histochemical study. Acta Histochem (1986) 0.77
Mercury intoxication from skin ointment containing mercuric ammonium chloride. Int Arch Occup Environ Health (2002) 0.77
Liver findings in Niemann-Pick disease type C. Histochem J (1984) 0.77
Studies in lipid histochemistry. I. Criticism of performic and peracetic acid-schiff reactions. Histochemie (1970) 0.77
Lactosylceramide in lysosomal storage disorders: a comparative immunohistochemical and biochemical study. Virchows Arch (2005) 0.77
[Transjugular renal biopsy--initial experience]. Cas Lek Cesk (1994) 0.77
Long term treatment of IgA nephropathy with cyclosporine A. Ren Fail (2000) 0.77
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
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
[Visceral and cutaneous leishmaniasis]. Cesk Patol (1996) 0.77
Studies in lipid histochemistry. 8. Some problems of bromination particularly in relation to lipid histochemistry. Histochemie (1972) 0.77
Effect of 1 year cyclosporine A treatment on the activity and renal involvement of systemic lupus erythematosus: a pilot study. Lupus (1998) 0.77
Studies in lipid histochemistry. X. Lipids in paraffin sections. Histochemie (1973) 0.77
[High frequency "bubble" oscillation ventilation in the neonatal period]. Cesk Pediatr (1992) 0.77
Histochemical observations of induction and depression of enzyme activities in various pathological conditions: personal experience. Histochem J (1984) 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
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5. Hum Mutat (2000) 0.76
Prevention of acute graft-versus-host disease in rats using 9-(2-phosphonomethoxyethyl) adenine (PMEA). Folia Biol (Praha) (1993) 0.76
[Soluble cytokinin receptors in renal vasculitis and lupus nephritis]. Cas Lek Cesk (1998) 0.76
[Disorders of mitochondrial energy metabolism in patients with the Kearns-Sayre syndrome]. Cas Lek Cesk (2002) 0.76