667 results on '"Elleder, M."'
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2. Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
3. Glucosylceramide transfer from lysosomes—the missing link in molecular pathology of glucosylceramidase deficiency: A hypothesis based on existing data
4. Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study
5. Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
6. CLN6
7. NCL Nomenclature and Classification
8. The NCLs: Evolution of the Concept and Classification
9. CLN7
10. CLN5
11. NCL Diagnosis and Algorithms
12. Morphological Diagnostic and Pathological Considerations
13. CLN2
14. Pulmonary storage with emphysema as a sign of Niemann–Pick type C2 disease (second complementation group). Report of a case
15. Cardiac manifestations in Fabry disease
16. 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
17. Mucolipidosis type II with evidence of a novel storage site
18. Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
19. Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders
20. Intravascular ultrasound assessment of coronary artery involvement in Fabry disease
21. A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency
22. Alterations of uromodulin biology: A common denominator of the genetically heterogeneous FJHN/MCKD syndrome
23. Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
24. FABRY DISEASE – CLINICAL MANIFESTATIONS AND GENETICS
25. Leptomeningeal lipid storage patterns in Fabry disease
26. Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase
27. Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene
28. Sequelae of storage in Fabry disease – pathology and comparison with other lysosomal storage diseases
29. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease: Report on a case simulating hypertrophic non-obstructive cardiomyopathy
30. Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood: Report on two cases with remarks on the nature of the liver storage process
31. MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency
32. Erythrophagocytosis by cultured skin fibroblasts from patients with hereditary metabolic disorders
33. Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency
34. Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria
35. Erratum to Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group)
36. Histochemical and Ultrastructural Study of Gaucher Cells
37. Neuropathology of Various Types of Niemann-Pick Disease
38. 1bp deletion in saposin B domain of the prosaposin gene leads to nonsense-mediated mRNA decay and prosaposin deficiency
39. Novel mutations in genes for frequent X-linked metabolic diseases (X-ALD, Fabry disease, OTC deficiency). A prevalent mutation for late onset form of OTC deficiency
40. Preface
41. 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
42. Niemann-Pick disease: Analysis of liver tissue in sphingomyelinase-deficient patients
43. Lectin histochemical study of lipopigments with special regard to neuronal ceroid-lipofuscinosis: Results with concanavalin A
44. Alkaline phosphatase activity induction in human spleen sinuses in storage diseases
45. Prolonged methanol fixation of soluble mucosubstances in mucopolysaccharidoses
46. Niemann-Pick disease type C with enhanced glycolipid storage: Report on further case of so-called lactosylceramidosis
47. A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and lowin vivo degradation rate of sphingomyelin
48. Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C
49. Lipid histochemistry of Niemann-Pick disease
50. A histochemical and ultrastructural study of stored material in neuronal ceroid lipofuscinosis
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