Lista de obras - Milan Elleder - Dominio Público Uruguay

A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.

artículo científico publicado en 2010

Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries

artículo científico publicado en 2010

Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)

artículo científico publicado en 2010

Association between cardiac energy metabolism and gain of left ventricular mass in Fabry disease

artículo científico publicado en 2009

Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.

artículo científico publicado en 2008

Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency.

artículo científico publicado en 2003

Biochemical characterization of a new melanoma model--the minipig MeLiM strain

artículo científico publicado en 2003

Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status

artículo científico publicado en 1997

Cellular and tissue localization of globotriaosylceramide in Fabry disease

artículo científico publicado en 2008

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

artículo científico publicado en 2012

Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.

artículo científico publicado en 2010

Danon disease: further clinical and molecular heterogeneity.

artículo científico publicado en 2009

Diagnosis of Niemann-Pick type C (NPC)--decisions at the cell level. Pathologist's report

scientific article published on 01 January 2010

Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens

scientific article published on 01 June 2012

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

artículo científico publicado en 2009

Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.

artículo científico publicado en 2005

Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis

artículo científico publicado en 2013

Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues

artículo científico publicado en 2003

Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.

artículo científico publicado en 2002

Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease

artículo científico publicado en 2012

Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male

scientific article published on 01 January 2012

Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).

artículo científico publicado en 2011

Melanosome degradation: fact or fiction

artículo científico publicado en 2003

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

artículo científico publicado en 2013

Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

artículo científico publicado en 2006

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

artículo científico publicado en 2009

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis.

artículo científico publicado en 2011

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

artículo científico publicado en 2011

Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin

artículo científico publicado en 2006

New insights in cardiac structural changes in patients with Fabry’s disease

Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients

scientific article published on 01 September 2004

Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI.

artículo científico publicado en 2011

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.

artículo científico publicado en 2009

Proteomic analysis of hepatic iron overload in mice suggests dysregulation of urea cycle, impairment of fatty acid oxidation, and changes in the methylation cycle

artículo científico publicado en 2007

Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase a gene mutation

article

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

article

Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.

artículo científico publicado en 2008

Right ventricular involvement in Fabry disease.

artículo científico publicado en 2008

Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C.

artículo científico publicado en 2003

Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene

artículo científico publicado en 2008

Subpial astrocytosis and focal leptomeningeal angiotropic astrocytosis leading to vascular compression: observations made in a case of mitochondrial encephalopathy

artículo científico publicado en 2008

Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma

artículo científico publicado en 2013

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

artículo científico publicado en 2010

Ultrastructural Changes of Mitochondria in the Cultivated Skin Fibroblasts of Patients with Point Mutations in Mitochondrial DNA

artículo científico publicado en 2006

[Discussion to the paper of doc. M. Spála "impact factor good servant, but a bad master"]

artículo científico publicado en 2006

Lista de obras de Milan Elleder

A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.

Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries

Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)

Association between cardiac energy metabolism and gain of left ventricular mass in Fabry disease

Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.

Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency.

Biochemical characterization of a new melanoma model--the minipig MeLiM strain

Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status

Cellular and tissue localization of globotriaosylceramide in Fabry disease

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.

Danon disease: further clinical and molecular heterogeneity.

Diagnosis of Niemann-Pick type C (NPC)--decisions at the cell level. Pathologist's report

Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.

Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis

Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues

Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.

Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease

Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male

Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).

Melanosome degradation: fact or fiction

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin

New insights in cardiac structural changes in patients with Fabry’s disease

Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients

Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI.

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.

Proteomic analysis of hepatic iron overload in mice suggests dysregulation of urea cycle, impairment of fatty acid oxidation, and changes in the methylation cycle

Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase a gene mutation

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.

Right ventricular involvement in Fabry disease.

Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C.

Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene

Subpial astrocytosis and focal leptomeningeal angiotropic astrocytosis leading to vascular compression: observations made in a case of mitochondrial encephalopathy

Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

Ultrastructural Changes of Mitochondria in the Cultivated Skin Fibroblasts of Patients with Point Mutations in Mitochondrial DNA

[Discussion to the paper of doc. M. Spála "impact factor good servant, but a bad master"]