Published in Virchows Arch B Cell Pathol Incl Mol Pathol on January 01, 1984
Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease). J Inherit Metab Dis (2010) 0.75
A microglial hypothesis of globoid cell leukodystrophy pathology. J Neurosci Res (2016) 0.75
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
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
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
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
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
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
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
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
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
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
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
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
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
Remarks on the "OTAN" reaction. Histochemie (1968) 0.81
Neuropathology of various types of Niemann-Pick disease. Acta Neuropathol Suppl (1981) 0.81
Culture of macrophage cell lines from normal mouse bone marrow. Nature (1982) 0.80
New enzymatic findings in infantile neuroaxonal dystrophy. Acta Neuropathol (1983) 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
Mitochondrial DNA depletion in Alpers syndrome. Neuropediatrics (2004) 0.79
[Cholesterol ester storage disease (CESD)]. Cesk Pediatr (1984) 0.79
Peripheral nervous system affection in experimental lipidosis induced by 4,4'-diethylaminoethoxyhexesterol. Virchows Arch B Cell Pathol (1977) 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
Lipidosis with a predominant storage of phosphoglycerides (phospholipidosis type II--Baar, Wiedemann). Virchows Arch A Pathol Anat Histol (1975) 0.79
A xanthogranulomatous process encircling large blood vessels (Erdheim-Chester disease?). Czech Med (1988) 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
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
Induction of dipeptidylpeptidase IV activity in human renal glomeruli--a histochemical study. Acta Histochem (1985) 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
Liver findings in Niemann-Pick disease type C. Histochem J (1984) 0.77
Studies in lipid histochemistry. X. Lipids in paraffin sections. Histochemie (1973) 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
Enzyme patterns in human endocytotic multinucleate giant cells--a histochemical study. Acta Histochem (1986) 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
Studies in lipid histochemistry. 8. Some problems of bromination particularly in relation to lipid histochemistry. Histochemie (1972) 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
Chromatography and spectrofluorometry of brain fluorophores in neuronal ceroid lipofuscinosis (NCL). Mech Ageing Dev (1992) 0.77
[The role of PET-CT in decision making on the treatment of localized nodular form of pulmonary AL-amyloidosis]. Vnitr Lek (2012) 0.76
Prevention of acute graft-versus-host disease in rats using 9-(2-phosphonomethoxyethyl) adenine (PMEA). Folia Biol (Praha) (1993) 0.76
[Disorders of mitochondrial energy metabolism in patients with the Kearns-Sayre syndrome]. Cas Lek Cesk (2002) 0.76
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
Letter: Storage of sulphatides in gastric mucosa in the late infantile form of sulphatidosis. Arch Dis Child (1974) 0.75
A histochemical study of the enzyme profile of Krabbe's cells. Acta Neuropathol (1983) 0.75
Iatrogenic generalized storage of dextran in patients on regular dialysis. Czech Med (1987) 0.75
[Infantile form of S.C. neuronal ceroid - lipofuscinosis (author's transl)]. Sb Lek (1976) 0.75
[Aberrations in the transport and metabolism of lipoproteins in cholesterol ester storage disease]. Cesk Pediatr (1985) 0.75
Clear cell melanoma of the skin with regressive changes. Histopathology (1991) 0.75
Model of acute graft-vs-host-disease in adult (SHR x BN.lx)F1 rats and its inhibition by adenine analog. Transplant Proc (1993) 0.75
[Iatrogenic generalized storage of dextran in regularly dialyzed patients]. Cesk Patol (1986) 0.75
alpha-D-mannosidase activity in histiocytosis X. Virchows Arch B Cell Pathol (1977) 0.75
[Amyloid light-chain amyloidosis with primary involvement of the cardiorespiratory system--2 case reports]. Vnitr Lek (1994) 0.75
[Familial hemophagocytic lymphohistiocytosis]. Cesk Patol (1990) 0.75
[Diagnosis of G(M2) gangliosidosis in routine practice]. Cesk Patol (1991) 0.75
[An adult form of type B Niemann-Pick disease manifesting as blue histiocyte syndrome]. Vnitr Lek (1986) 0.75
New subform of the late infantile form of neuronal ceroid lipofuscinosis. Neuropediatrics (1993) 0.75
[Extracellular ceroid in the adipose tissue of the field hare (Lepus europaeus Pall.)]. Cesk Patol (1994) 0.75
Possibilities for the cytochemical diagnosis of enzymopathies. Acta Univ Carol Med Monogr (1977) 0.75
Histochemical diagnosis of lipidoses. Acta Univ Carol Med Monogr (1977) 0.75
Heterogeneity of lymphocytic colonies in agar culture. Folia Biol (Praha) (1987) 0.75
[Xanthogranulomatous processes in the area of the large vessels]. Cesk Patol (1986) 0.75
[2 cases of type C Niemann-Pick disease]. Cesk Pediatr (1989) 0.75
Congenital histiocytosis. A heterogeneous group of diseases, one presenting as so-called congenital self-healing histiocytosis. Pathol Res Pract (1991) 0.75
[Sphingomyelinase deficiency (Niemann-Pick) type A. A new variant with an unusually prolonged course]. Sb Lek (1988) 0.75
[Lipids in the renal veins and disseminated intravascular coagulation]. Cesk Patol (1975) 0.75
[Niemann-Pick disease, 1914-1986. Review of the development of the present state of knowledge]. Cas Lek Cesk (1987) 0.75
Remarks on the detection of osmium derivatives in tissue sections. Histochemie (1968) 0.75
Adrenal changes in Niemann-Pick disease: differences between sphingomyelinase deficiency and type C. Acta Histochem (1985) 0.75
Enzyme histochemistry of human melanomas and pigmented naevi with special reference to alpha-D-mannosidase activity. Histochem J (1986) 0.75
[2 case reports of Gaucher's disease]. Cesk Pediatr (1989) 0.75
Balloon cell melanoma of the skin. part I: Histology, immunohistology and histochemistry. Acta Univ Palacki Olomuc Fac Med (1990) 0.75
Thymidine kinase in malignant melanoma. Melanoma Res (1994) 0.75