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Mucopolysaccharidosis type II in 44 Czech, Slovak, Serbian and Croatian patients: clinical manifestation and analysis of mutational spectrum

Magner M., Dvořáková L., Vlášková H., Sarajlija A., Petković Ramadža D., Poupětová H., Hrubá E., Hlavatá A., Bzdúch V., Pešková K., Štorkánová G., Kecman B., Diordjevic M., Barić I., Fumić K., Barišić I., Řeboun M., Kulhánek J., Zeman J.

. 2016 ; 71 (Supplementum 1) : 47-48. (XII. Český pediatrický kongres s mezinárodní účastí 15. – 17. září 2016, Hradec Králové)

Status not-indexed Language English Country Czech Republic

Document type Meeting Abstract

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$a Magner, Martin $7 xx0084624 $u Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
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$a Mucopolysaccharidosis type II in 44 Czech, Slovak, Serbian and Croatian patients: clinical manifestation and analysis of mutational spectrum / $c Magner M., Dvořáková L., Vlášková H., Sarajlija A., Petković Ramadža D., Poupětová H., Hrubá E., Hlavatá A., Bzdúch V., Pešková K., Štorkánová G., Kecman B., Diordjevic M., Barić I., Fumić K., Barišić I., Řeboun M., Kulhánek J., Zeman J.
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$a Dvořáková, Lenka $7 xx0060521 $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
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$a Vlášková, Hana $7 xx0121859 $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
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$a Sarajlija, A. $u Department of Metabolism and Clinical Genetics, Mother and Child Health Care Institute of Serbia „Dr Vukan Cupic“, Belgrade, Serbia, University of Belgrade, School of Medicine, Serbia
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$a Petković Ramadža, D. $u Department of Pediatrics, University Hospital Center Zagreb, Croatia
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$a Poupětová, Helena, $d 1956- $7 jo2003181497 $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
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$a Hrubá, Eva $7 xx0155481 $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
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$a Hlavatá, Anna $7 xx0077411 $u Ist Department of Pediatrics Comenius University Children's Hospital, Bratislava, Slovakia
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$a Bzdúch, Vladimír $7 xx0105265 $u IInd Department of Pediatrics Comenius University Children's Hospital, Bratislava, Slovakia
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$a Pešková, Karolína $7 xx0172216 $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
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$a Štorkánová, Gabriela $7 xx0246969 $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
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$a Kecman, B. $u Department of Metabolism and Clinical Genetics, Mother and Child Health Care Institute of Serbia „Dr Vukan Cupic“, Belgrade, Serbia, University of Belgrade, School of Medicine, Serbia
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$a Diordjevic, M. $u Department of Metabolism and Clinical Genetics, Mother and Child Health Care Institute of Serbia „Dr Vukan Cupic“, Belgrade, Serbia, University of Belgrade, School of Medicine, Serbia
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$a Barić, I. $u Department of Pediatrics, University Hospital Center Zagreb and School of Medicine Zagreb, Croatia
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$a Fumić, K. $u Department of Laboratory Diagnostics, University Hospital Centre Zagreb, Croatia
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$a Barišić, I. $u Children's Hospital, School of Medicine, Zagreb, Croatia
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$a Řeboun, M. $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
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$a Kulhánek, Jan $7 jx20081107010 $u Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
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$a Zeman, Jiří, $d 1950- $7 skuk0001517 $u Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
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