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Milan Elleder

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Eva Sticova; Irena Wunschova-Moudra; Milan Elleder; Helena Hulkova; Ondrej Luksan; Jan Novotny; Martin Sauer; Milan Jirsa
Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis.
Tomáš Honzík; Pavel Ješina; Ivo Barić; Lenka Bauerová; Robert Belužić; Milan Elleder; Hana Hansíkova; Jan Krijt; Martin Magner; Nina Ondrušková; Jitka Sokolová; Kateřina Veselá; Oliver Vugrek; Jiří Zeman; Viktor Kožich
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.
Helena Hulková; Milan Elleder
Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens.

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2013: Eva Sticova; Irena Wunschova-Moudra; Milan Elleder; Helena Hulkova; Ondrej Luksan; Jan Novotny; Martin Sauer; Milan Jirsa
Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis.
World journal of gastroenterology : WJG 2013;19(6):946-50.
2012: Tomáš Honzík; Pavel Ješina; Ivo Barić; Lenka Bauerová; Robert Belužić; Milan Elleder; Hana Hansíkova; Jan Krijt; Martin Magner; Nina Ondrušková; Jitka Sokolová; Kateřina Veselá; Oliver Vugrek; Jiří Zeman; Viktor Kožich
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.
Molecular genetics and metabolism 2012;107(3):611-3.
2012: Helena Hulková; Milan Elleder
Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens.
Histopathology 2012;60(7):1107-13.
2012: Filip Majer; L Stolnaya; H Vlaskova; Lenka Dvorakova; Milan Elleder; Tomas Kalina; L Krol; M Kubanek; Jakub Sikora
Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.
Gene 2012;498(2):183-95.
2012: Helena Hulková; Ladislav Kuchař; Frantisek Smíd; Jitka Honzíková; Jana Ledvinová; Milan Elleder
Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease.
Glycobiology 2012;22(5):725-32.
2012: Tomas Palecek; Marketa Tesarova; Jiří Zeman; Vladimir Dytrych; Milan Elleder; Hana Hansikova; Tomas Honzik; Helena Hulkova; Petr Kuchynka; Ales Linhart
Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male.
International heart journal 2012;53(6):383-7.
2011: Lenka Nosková; Anna Přistoupilová; Katherine B Sims; John F Staropoli; Viktor Stránecký; Jaana Tyynelä; Christine Van Broeckhoven; Julie van der Zee; Veronika Barešová; Milan Elleder; Hana Hartmannová; Helena Hůlková; Robert Ivanek; Helena Jahnová; Sara E Mole; Peter Nijssen; Stanislav Kmoch
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
American journal of human genetics 2011;89(2):241-52.
2011: Robert D Young; Jiri Zeman; Marketa Tesarova; Milan Elleder; Enkela Hrdlickova; Katerina Jirsova; Carlo Knupp; Petra Liskova; Keith M Meek; Barbara P Palka; Michalis Palos; Christian Pinali; Andrew J Quantock
Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).
Investigative ophthalmology & visual science 2011;52(9):6720-8.
2011: Guilherme Baldo; Ursula Matte; Osvaldo Artigalas; Ida V D Schwartz; Maira G Burin; Erlane Ribeiro; Dafne Horovitz; Tatiana Pacheco Magalhaes; Milan Elleder; Roberto Giugliani
Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI.
Molecular genetics and metabolism 2011;103(2):197-8.
2010: Anthony J Bleyer; M Zivná; Helena Hulková; Katerina Hodanová; P Vyletal; Jakub Sikora; J Zivný; J Sovová; Thomas Hart; J N Adams; Milan Elleder; Katja Kapp; R Haws; L D Cornell; Stanislav Kmoch; P Suzanne Hart
Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.
Clinical nephrology 2010;74(6):411-22.
2010: Tomas Palecek; Jan Bultas; Milan Hajek; Debora Karetova; Petr Kuchynka; Josef Kautzner; Milan Elleder; Ales Linhart
Association between cardiac energy metabolism and gain of left ventricular mass in Fabry disease.
International journal of cardiology 2010;144(2):337-9.
2010: Kenneth N Maclean; Jakub Sikora; Viktor Kožich; Hua Jiang; Lori S Greiner; Eva Kraus; Jakub Krijt; Linda S Crnic; Robert H Allen; Sally P Stabler; Milan Elleder; Jan P Kraus
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.
Molecular genetics and metabolism 2010;101(2-3):163-71.
2010: Kenneth N Maclean; Jakub Sikora; Viktor Kožich; Hua Jiang; Lori S Greiner; Eva Kraus; Jakub Krijt; Katherine H Overdier; Renata Collard; Gary L Brodsky; Lynne Meltesen; Linda S Crnic; Robert H Allen; Sally P Stabler; Milan Elleder; Rima Rozen; David Patterson; Jan P Kraus
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.
Molecular genetics and metabolism 2010;101(2-3):153-62.
2010: Helena Poupetová; Jana Ledvinová; Linda Berná; Lenka Dvoráková; Viktor Kozich; Milan Elleder
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.
Journal of inherited metabolic disease 2010;33(4):387-96.
2010: Helena Hůlková; Helena Poupetová; Klaus Harzer; Pramod Mistry; Johannes M F G Aerts; Milan Elleder
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries.
Journal of inherited metabolic disease 2010;33(1):69-78.
2010: T Petr; V Smíd; J Smídová; H Hůlková; Marie Jirkovská; Milan Elleder; Lucie Muchová; L Vitek; Frantisek Smíd
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.
European journal of histochemistry : EJH 2010;54(2):e23.
2010: Milan Elleder
Diagnosis of Niemann-Pick type C (NPC)--decisions at the cell level. Pathologist's report.
Molecular genetics and metabolism 2010;99(1):98.
2009: Martina Zivná; Helena Hůlková; Marie Matignon; Katerina Hodanová; Petr Vylet'al; Marie Kalbácová; Veronika Baresová; Jakub Sikora; Hana Blazková; Jan Zivný; Robert Ivanek; Viktor Stránecký; Jana Sovová; Kathleen Claes; Evelyne Lerut; Jean-Pierre Fryns; P Suzanne Hart; Thomas Hart; Jeremy N Adams; Audrey Pawtowski; Maud Clemessy; Jean-Marie Gasc; Marie-Claire Gübler; Corinne Antignac; Milan Elleder; Katja Kapp; Philippe Grimbert; Anthony J Bleyer; Stanislav Kmoch
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
American journal of human genetics 2009;85(2):204-13.
2009: H Hůlková; Jana Ledvinová; Helena Poupetová; A Kohout; V Malinová; Milan Elleder
Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process.
Journal of inherited metabolic disease 2009;32(4):551-9.
2009: Frédérique Sabourdy; Helen Michelakakis; Aris Anastasakis; Virginie Garcia; Irene Mavridou; Michèle Nieto; Marie-Claude Pons; Constantinos Skiadas; Marina Moraitou; Panagiota Manta; Milan Elleder; Thierry Levade
Danon disease: further clinical and molecular heterogeneity.
Muscle & nerve 2009;39(6):837-44.
2009: Maria Kousi; Eija Siintola; Lenka Dvorakova; Hana Vlaskova; Julie Turnbull; Meral Topcu; Deniz Yuksel; Sarenur Gokben; Berge A Minassian; Milan Elleder; Sara E Mole; Anna-Elina Lehesjoki
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Brain : a journal of neurology 2009;132(Pt 3):810-9.
2009: Ladislav Kuchar; Jana Ledvinová; Martin Hrebícek; Helena Mysková; Lenka Dvoráková; Linda Berná; P Chrastina; Befekadu Asfaw; Milan Elleder; Margret Petermöller; Heidi Mayrhofer; Martin Staudt; Ingeborg Krägeloh-Mann; BC Paton; Klaus Harzer
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.
American journal of medical genetics. Part A 2009;149A(4):613-21.
2008: T Kovarnik; G S Mintz; Debora Karetova; Jiri Horak; Jan Bultas; R Skulec; H Skalicka; Michael Aschermann; Milan Elleder; Ales Linhart
Intravascular ultrasound assessment of coronary artery involvement in Fabry disease.
Journal of inherited metabolic disease 2008;31(6):753-60.
2008: Helena Hůlková; Rastislav Druga; Pavol Ondrejovic; Milan Elleder
Subpial astrocytosis and focal leptomeningeal angiotropic astrocytosis leading to vascular compression: observations made in a case of mitochondrial encephalopathy.
Acta neuropathologica 2008;116(6):667-9.
2008: Tomas Palecek; Gabriela Dostalova; Petr Kuchynka; Debora Karetova; Jan Bultas; Milan Elleder; Ales Linhart
Right ventricular involvement in Fabry disease.
Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography 2008;21(11):1265-8.
2008: P Vylet'al; H Hůlková; M Zivná; Linda Berná; P Novák; Milan Elleder; Stanislav Kmoch
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.
Journal of inherited metabolic disease 2008;31(4):508-17.
2008: Milan Elleder; Lenka Dvoráková; Larisa Stolnaja; Hana Vlásková; Helena Hůlková; Rastislav Druga; Helena Poupetová; Eva Kostálová; Josef Mikulástík
Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.
Acta neuropathologica 2008;116(1):119-24.
2008: Milan Elleder
Cellular and tissue localization of globotriaosylceramide in Fabry disease.
Virchows Archiv : an international journal of pathology 2008;452(6):705; author reply 707-8.
2008: Jana Keslová-Veselíková; Helena Hůlková; Robert Dobrovolný; Befekadu Asfaw; Helena Poupetová; Linda Berná; Jakub Sikora; Lubor Golán; Jana Ledvinová; Milan Elleder
Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.
Virchows Archiv : an international journal of pathology 2008;452(6):651-65.
2008: Katerina Vesela; Helena Hulkova; Hana Hansikova; Jiri Zeman; Milan Elleder
Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene.
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 2008;116(1):41-9.
2007: Jakub Sikora; Lenka Dvoráková; H Vlásková; Larisa Stolnaja; J Betlach; J Spacek; Milan Elleder
A case of excessive autophagocytosis with multiorgan involvement and low clinical penetrance.
Ceskoslovenská patologie 2007;43(3):93-103.
2007: Jiri Petrak; Denisa Myslivcova; Petr Man; Radek Cmejla; Jana Cmejlova; Daniel Vyoral; Milan Elleder; Christopher D Vulpe
Proteomic analysis of hepatic iron overload in mice suggests dysregulation of urea cycle, impairment of fatty acid oxidation, and changes in the methylation cycle.
American journal of physiology. Gastrointestinal and liver physiology 2007;292(6):G1490-8.
2007: Robert Dobrovolny; Petra Liskova; Jana Ledvinova; Helena Poupetova; Befekadu Asfaw; Martin Filipec; Katerina Jirsova; Josef Kraus; Milan Elleder
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.
American journal of ophthalmology 2007;143(4):663-71.
2007: Jakub Sikora; Klaus Harzer; Milan Elleder
Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin.
Acta neuropathologica 2007;113(2):163-75.
2006: Milan Elleder
Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.
Journal of inherited metabolic disease 2006;29(6):707-15.
2006: P Vylet'al; M Kublová; Marie Kalbácová; Katerina Hodanová; V Baresová; B Stibůrková; Jakub Sikora; H Hůlková; J Zivný; Jacek Majewski; A Simmonds; Jean-Pierre Fryns; Gopalakrishnan Venkat-Raman; Milan Elleder; Stanislav Kmoch
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.
Kidney international 2006;70(6):1155-69.
2006: Lenka Dvorakova; Jakub Sikora; Martin Hrebicek; H Hulkova; M Bouckova; Larisa Stolnaja; Milan Elleder
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
Journal of inherited metabolic disease 2006;29(4):591.
2006: Olga Brantová; Markéta Tesarová; Hana Hansíková; Milan Elleder; Jirí Zeman; Jana Sládková
Ultrastructural changes of mitochondria in the cultivated skin fibroblasts of patients with point mutations in mitochondrial DNA.
Ultrastructural pathology 2006;30(4):239-45.
2006: Milan Elleder
[Discussion to the paper of doc. M. Spála "impact factor good servant, but a bad master"].
Casopís lékar̆ů c̆eských 2006;145(3):224.
2005: Linda Berna; Volkmar Gieselmann; Helena Poupetova; Martin Hrebicek; Milan Elleder; Jana Ledvinova
Gene symbol: ARSA. Disease: metachromatic leukodystrophy.
Human genetics 2005;118(3-4):538.
2005: Linda Berna; Volkmar Gieselmann; Helena Poupetova; Martin Hrebicek; Milan Elleder; Jana Ledvinova
Gene symbol: ARSA. Disease: metachromatic leukodystrophy.
Human genetics 2005;118(3-4):538.
2005: Linda Berna; Volkmar Gieselmann; Helena Poupetova; Martin Hrebicek; Milan Elleder; Jana Ledvinova
Gene symbol: ARSA. Disease: metachromatic leukodystrophy.
Human genetics 2005;118(3-4):537.
2005: Linda Berna; Volkmar Gieselmann; Helena Poupetova; Martin Hrebicek; Milan Elleder; Jana Ledvinova
Gene symbol: ARSA. Disease: metachromatic leukodystrophy.
Human genetics 2005;118(3-4):537.
2005: Robert Dobrovolny; Lenka Dvorakova; Jana Ledvinova; Sudheera Magage; Jan Bultas; Jean C Lubanda; Milan Elleder; Debora Karetova; Marketa Pavlikova; Martin Hrebicek
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.
Journal of molecular medicine (Berlin, Germany) 2005;83(8):647-54.
2005: Dita Cebecauerova; Tomas Jirasek; Lucie Budisova; Václav Mandys; Vladimir Volf; Zorka Novotna; Iva Subhanova; Martin Hrebicek; Milan Elleder; Milan Jirsa
Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.
Gastroenterology 2005;129(1):315-20.
2005: H Hůlková; Jana Ledvinová; Befekadu Asfaw; K Koubek; K Kopriva; Milan Elleder
Lactosylceramide in lysosomal storage disorders: a comparative immunohistochemical and biochemical study.
Virchows Archiv : an international journal of pathology 2005;447(1):31-44.
2005: Milan Elleder; M Jerábková; A Befekadu; Martin Hrebícek; Linda Berná; Jana Ledvinová; H Hůlková; H Rosewich; N Schymik; BC Paton; Klaus Harzer
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient.
Neuropediatrics 2005;36(3):171-80.
2005: Robert Dobrovolný; Lenka Dvoráková; Jana Ledvinová; Sudheera Magage; Jan Bultas; Jean C Lubanda; Helena Poupetová; Milan Elleder; Debora Karetová; Martin Hrebícek
Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation.
American journal of medical genetics. Part A 2005;134A(1):84-7.
2005: H Pavlů-Pereira; Befekadu Asfaw; H Poupctová; Jana Ledvinová; Jakub Sikora; marie T vanier; K Sandhoff; Jirí Zeman; Z Novotná; D Chudoba; Milan Elleder
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.
Journal of inherited metabolic disease 2005;28(2):203-27.
2004: Katerina Vesela; Hana Hansikova; Marketa Tesarova; Pavel Martasek; Milan Elleder; Josef Houstek; Jirí Zeman
Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene.
Acta paediatrica (Oslo, Norway : 1992) 2004;93(10):1312-7.
2004: Linda Berná; Volkmar Gieselmann; Helena Poupetová; Martin Hrebícek; Milan Elleder; Jana Ledvinová
Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.
American journal of medical genetics. Part A 2004;129A(3):277-81.
2004: Marketa Tesarova; Johannes A Mayr; Laszlo Wenchich; Hana Hansikova; Milan Elleder; K Blahova; Wolfgang Sperl; Jirí Zeman
Mitochondrial DNA depletion in Alpers syndrome.
Neuropediatrics 2004;35(4):217-23.
2003: Milan Elleder
Sequelae of storage in Fabry disease--pathology and comparison with other lysosomal storage diseases.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2003;92(443):46-53; discussion 45.
2003: Jan Borovanský; Vratislav Horák; Milan Elleder; Karel Fortýn; Nico P M Smit; Adriana M Kolb
Biochemical characterization of a new melanoma model--the minipig MeLiM strain.
Melanoma research 2003;13(6):543-8.
2003: Claudia Heine; Jaana Tyynelä; Jonathan D Cooper; David N Palmer; Milan Elleder; Alfried Kohlschuetter; Thomas Braulke
Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues.
The Biochemical journal 2003;376(Pt 2):369-76.
2003: Peter Nijssen; Chantal Ceuterick; Otto P van Diggelen; Milan Elleder; Jean-Jacques Martin; Johannes L J M Teepen; Jaana Tyynelä; Raymund A C Roos
Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency.
Brain pathology (Zurich, Switzerland) 2003;13(4):574-81.
2003: Jitka Vankova; Iva Stepanova; Robert Jech; Milan Elleder; Lig Ling; Emmanuel Mignot; Seiji Nishino; Sona Nevsimalova
Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C.
Sleep 2003;26(4):427-30.
2003: Jan Borovanský; Milan Elleder
Melanosome degradation: fact or fiction.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 2003;16(3):280-6.
2003: Jakub Sikora; H Pavlu-Pereira; Milan Elleder; H Roelofs; Ron A Wevers
Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients.
Annals of human genetics 2003;67(Pt 1):63-70.
2002: Hans H Klünemann; Milan Elleder; Wolfgang E Kaminski; Karen Snow; Janis M Peyser; John F O'brien; David Munoz; Gerd Schmitz; Helmfried E Klein; William W Pendlebury
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.
Annals of neurology 2002;52(6):743-9.
2002: Markéta Capková; Markéta Tesarová; Laszlo Wenchich; L Cerná; Hana Hansíková; H Hůlková; E Hrubá; Milan Elleder; Jirí Zeman
[Disorders of mitochondrial energy metabolism in patients with the Kearns-Sayre syndrome].
Casopís lékar̆ů c̆eských 2002;141(2):51-4.
2001: Milan Elleder; H Poupĕtová; Jana Ledvinová; Jirí Zeman; S Rosipal; J Kraus
[Lysosomal sphingomyelinase deficiency: spectrum of phenotypes in Czech and Slovak patients].
Casopís lékar̆ů c̆eských 2001;140(24):755-60.
2001: Milan Elleder; Alena Chlumská; S Hadravská; D Pilát
Neonatal (perinatal) hemochromatosis.
Ceskoslovenská patologie 2001;37(4):146-53.
2001: Milan Elleder; H Houstková; Jirí Zeman; Jana Ledvinová; Helena Poupetová
Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group). Report of a case.
Virchows Archiv : an international journal of pathology 2001;439(2):206-11.
2001: Milan Elleder; Jan Borovanský
Autofluorescence of melanins induced by ultraviolet radiation and near ultraviolet light. A histochemical and biochemical study.
The Histochemical journal 2001;33(5):273-81.
2001: Helena Hulková; M Cervenková; Jana Ledvinová; M Tochácková; Martin Hrebícek; Helena Poupetová; A Befekadu; Linda Berná; BC Paton; Klaus Harzer; A Böör; Frantisek Smíd; Milan Elleder
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.
Human molecular genetics 2001;10(9):927-40.
2001: Ales Linhart; Jean C Lubanda; Tomas Palecek; Jan Bultas; Debora Karetová; Jana Ledvinová; Milan Elleder; Michael Aschermann
Cardiac manifestations in Fabry disease.
Journal of inherited metabolic disease 2001;24 Suppl 2():75-83; discussion 65.
2000: Helena Poupetová; D Chudoba; Martin Hrebícek; Viktor Kozich; Jana Ledvinová; M Macek; Milan Elleder
[Prenatal diagnosis of lysosomal enzymopathies in the Czech Republic].
Casopís lékar̆ů c̆eských 2000;139(15):468-74.
2000: Stanislav Kmoch; Jirí Brynda; Befekadu Asfaw; Karel Bezouska; Petr Novák; Pavlína Rezácová; L Ondrová; Martin Filipec; Juraj Sedlácek; Milan Elleder
Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography.
Human molecular genetics 2000;9(12):1779-86.
2000: Ales Linhart; Tomas Palecek; Jan Bultas; J J Ferguson; J Hrudová; Debora Karetová; Jirí Zeman; Jana Ledvinová; Helena Poupetová; Milan Elleder; Michael Aschermann
New insights in cardiac structural changes in patients with Fabry's disease.
American heart journal 2000;139(6):1101-8.
2000: Milan Elleder; Alena Chlumská; Josef Hyánek; H Poupĕtová; Jana Ledvinová; S Maas; P Lohse
Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer.
Journal of hepatology 2000;32(3):528-34.
2000: Milan Elleder; A Chlumska; Jana Ledvinová; Helena Poupetová
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.
Virchows Archiv : an international journal of pathology 2000;436(1):82-7.
2000: P Lohse; S Maas; P Lohse; Milan Elleder; J M Kirk; G T Besley; Dietrich Seidel
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease.
Journal of lipid research 2000;41(1):23-31.
1999: Milan Elleder; H Poupĕtová; Jana Ledvinová; Josef Hyánek; Jirí Zeman; Josef Sýkora; Frantisek Stozický; Alena Chlumská; P Lohse
[Lysosomal acid lipase deficiency. Overview of Czech patients].
Casopís lékar̆ů c̆eských 1999;138(23):719-24.
1999: H Hůlková; Jana Ledvinová; H Poupĕtová; Jan Bultas; Jirí Zeman; Milan Elleder
[Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family].
Casopís lékar̆ů c̆eských 1999;138(21):660-4.
1999: Li Wang; X Ou; Ivan Sebesta; K Vondrak; Jan Krijt; Milan Elleder; Helena Poupetova; Jana Ledvinova; Jirí Zeman; H Anne Simmonds; Jay A Tischfield; Amrik Sahota
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.
Molecular genetics and metabolism 1999;68(1):78-85.
1999: Milan Elleder; Stanislav Kmoch; M Hejtmánková; I Bouska
[Autopsy and biopsy findings in disorders of mitochondrial beta-oxidation of fatty acids. Role of the pathologist in the diagnostic process].
Ceskoslovenská patologie 1999;35(3):98-105.
1999: L Stratilová; Jirí Zeman; Hana Houst'ková; Hana Hansíková; V Konrádová; H Hůlková; Milan Elleder; E Růzicka; D Tyl; E Hrubá; J Houstĕk
[Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome].
Casopís lékar̆ů c̆eských 1999;138(13):401-5.
1999: J Obenberger; Zdenek Seidl; H Pavlů; Milan Elleder
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency.
Neuroradiology 1999;41(3):182-4.
1999: Jan Borovanský; P Hach; Karel Smetana; Milan Elleder; I Matous-Malbohan
Attempts to induce melanosome degradation in vivo.
Folia biologica 1999;45(2):47-52.
1998: Milan Elleder; J J Martin
Mucolipidosis type II with evidence of a novel storage site.
Virchows Archiv : an international journal of pathology 1998;433(6):575-8.
1998: L Stratilová; Jirí Zeman; Hana Hansíková; J Houstĕk; J Hermanská; Z Dudková; V Konrádová; H Hůlková; Milan Elleder
[Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA].
Casopís lékar̆ů c̆eských 1998;137(14):430-3.
1998: Milan Elleder; J Tyynela
Incidence of neuronal perikaryal spheroids in neuronal ceroid lipofuscinoses (Batten disease).
Clinical neuropathology 1998;17(4):184-9.
1998: I Melezínek; Jan Borovanský; Milan Elleder; E Bubnová
Tumour tissue is a source of gamma-glutamyl transpeptidase sialoform in the sera of melanoma-bearing mice.
Melanoma research 1998;8(1):39-45.
1998: Milan Elleder; H Poupĕtová; V Kozich
[Fetal pathology in Fabry's disease and mucopolysaccharidosis type I].
Ceskoslovenská patologie 1998;34(1):7-12.
1997: Milan Elleder; H Poupĕtová; Jirí Zeman; Martin Hrebícek; Jana Ledvinová; A Baxová; M Podhola
[Mucolipidosis II (I cell disease). First case report in the Czech Republic and prenatal diagnosis in a family].
Casopís lékar̆ů c̆eských 1997;136(22):702-6.
1997: H Pavlů; Milan Elleder
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.
Journal of inherited metabolic disease 1997;20(4):615-6.
1997: Milan Elleder; Jitka Sokolová; Martin Hrebícek
Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders.
Acta neuropathologica 1997;93(4):379-90.
1997: Jana Ledvinová; Helena Poupetová; A Hanácková; M Písacka; Milan Elleder
Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status.
Biochimica et biophysica acta 1997;1345(2):180-7.
1996: Martin Hrebícek; Jirí Zeman; J Musilová; Katerina Hodanová; G Herma Renkema; L Vepreková; Jana Ledvinová; D Hrebícek; Jitka Sokolová; johannes aerts; Milan Elleder
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency.
Virchows Archiv : an international journal of pathology 1996;429(4-5):305-9.
1994: Jan Borovanský; J Stríbrná; Milan Elleder; I Netíková
Thymidine kinase in malignant melanoma.
Melanoma research 1994;4(5):275-9.
1994: Jana Ledvinová; H Poupĕtová; Milan Elleder; J Tichý; V Pĕnicková; Klaus Harzer
Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria.
Journal of inherited metabolic disease 1994;17(1):118-9.
1994: Milan Elleder; H Christomanou; B Kustermann-Kuhn; Klaus Harzer
Leptomeningeal lipid storage patterns in Fabry disease.
Acta neuropathologica 1994;88(6):579-82.
1993: Vladimír Kren; Berta Otová; Daniel Elleder; Milan Elleder; A Panczak; M Sladká
Model of acute graft-vs-host-disease in adult (SHR x BN.lx)F1 rats and its inhibition by adenine analog.
Transplantation proceedings 1993;25(5):2822-3.
1993: Milan Elleder; E Holecková; Václav Mandys
Erythrophagocytosis by cultured skin fibroblasts from patients with hereditary metabolic disorders.
Experientia 1993;49(1):84-6.
1993: Milan Elleder
New findings in pathology of storage.
Pädiatrie und Pädologie 1993;28(1):27-32.
1993: Vladimír Kren; Berta Otová; Daniel Elleder; Milan Elleder; A Panczak; Antonín Holý
Prevention of acute graft-versus-host disease in rats using 9-(2-phosphonomethoxyethyl) adenine (PMEA).
Folia biologica 1993;39(2):78-86.
1993: Milan Elleder; Y S Shin; A Zuntová; P Vojtovic; V Chalupecký
Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase.
Virchows Archiv. A, Pathological anatomy and histopathology 1993;423(4):303-7.
1993: Milan Elleder; J Kraus; R Kodet
Infantile sialic acid storage disease (ISSD). Report on first case in Czech Republic with biopsy and autopsy findings.
Sborník lékar̆ský 1993;94(2):145-53.
1993: Jana Ledvinová; Milan Elleder
Filipin test for diagnosis of Niemann-Pick disease type C.
Sborník lékar̆ský 1993;94(2):137-43.
1992: Milan Elleder
Foamy transformed Gaucher cells.
Zentralblatt für Pathologie 1992;138(1):47-50.
1992: Milan Elleder
Eccrine gland involvement in Krabbe's disease.
Virchows Archiv. A, Pathological anatomy and histopathology 1992;421(4):351-4.
1991: Milan Elleder
Primary extracellular ceroid type lipopigment. A histochemical and ultrastructural study.
The Histochemical journal 1991;23(6):247-58.
1991: A Karpenko; Milan Elleder; A Jirásek; Jana Ledvinová
[Diagnosis of G(M2) gangliosidosis in routine practice].
Ceskoslovenská patologie 1991;27(1-2):48-54.
1990: Milan Elleder; Jana Ledvinová; F Vosmík; Jirí Zeman; D Stejskal; A Lageron
An atypical ultrastructural pattern in Fabry's disease: a study on its nature and incidence in 7 cases.
Ultrastructural pathology 1990;14(6):467-74.
1990: Milan Elleder; V Dorazilová; V Bradová; M Bĕlohlávek; V Král; M Choura; M Budĕsínský; Klaus Harzer
[Fabry's disease with isolated disease of the cardiac muscle, manifesting as hypertrophic cardiomyopathy].
Casopís lékar̆ů c̆eských 1990;129(12):369-72.
1990: Milan Elleder; V Bradová; Frantisek Smíd; M Budĕsínský; Klaus Harzer; B Kustermann-Kuhn; Jana Ledvinová; V Král; V Dorazilová
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy.
Virchows Archiv. A, Pathological anatomy and histopathology 1990;417(5):449-55.
1990: Milan Elleder; J Ledvinová; P Cieslar; R Kuhn
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.
Virchows Archiv. A, Pathological anatomy and histopathology 1990;416(4):357-65.
1989: Milan Elleder; C Michalec; A Jirásek; K Khun; M Havlová; M Ranný
Membranocystic lesion in the brain in cerebrotendinous xanthomatosis. Histochemical and ultrastructural study with evidence of its ceroid nature.
Virchows Archiv. B, Cell pathology including molecular pathology 1989;57(6):367-74.
1989: Milan Elleder
So-called membranocystic lesion (MCL)--a new variant of ceroid type lipopigment.
Advances in experimental medicine and biology 1989;266():191-206; discussion 207.
1985: Milan Elleder; A Jirásek; Frantisek Smíd; Jana Ledvinová; G T Besley
Niemann-Pick disease type C. Study on the nature of the cerebral storage process.
Acta neuropathologica 1985;66(4):325-36.
1984: Milan Elleder; Frantisek Smíd; H Hyniová; J Cihula; J Zeman; M Macek
Liver findings in Niemann-Pick disease type C.
The Histochemical journal 1984;16(11):1147-70.
1984: B Bednár; J Kulhánková; V Dorazilová; Milan Elleder
[Histocytology of lymphatic tissue].
Ceskoslovenská patologie 1984;20(2):67-72.
1984: Milan Elleder; A Jirásek; Frantisek Smíd; Jana Ledvinová; G T Besley; M Stopeková
Niemann-Pick disease type C with enhanced glycolipid storage. Report on further case of so-called lactosylceramidosis.
Virchows Archiv. A, Pathological anatomy and histopathology 1984;402(3):307-17.
1983: P Mirejovský; B Bednár; Milan Elleder; V Dorazilová; Z Kostrouch; J Kulhánková; Václav Mandys; M Stanová; Frantisek Smíd
[Present trends and methodological basis for the cognitive process in pathology].
Casopís lékar̆ů c̆eských 1983;122(43):1317-9.
1982: E Holecková; Václav Mandys; Milan Elleder; B Jakoubek
Enzyme activities of a cold-resistant L cell variant.
Experientia 1982;38(5):590-2.
1980: Milan Elleder; Frantisek Smíd; Klaus Harzer; J Cihula
Niemann-Pick disease. Analysis of liver tissue in sphingomyelinase-deficient patients.
Virchows Archiv. A, Pathological anatomy and histology 1980;385(2):215-31.
1980: Jan Borovanský; Milan Elleder; P Hach
Parameters of melanoma differentiation.
Folia morphologica 1980;28(4):398-401.