Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II-Reference-Cited by-同舟云学术

Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II

Published:2017-03-17 Issue:5 Volume:91 Page:787-796
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Dvorakova L.¹,Vlaskova H.¹,Sarajlija A.²³,Ramadza D. P.⁴,Poupetova H.¹,Hruba E.¹,Hlavata A.⁵,Bzduch V.⁶,Peskova K.¹,Storkanova G.¹,Kecman B.²,Djordjevic M.²³,Baric I.⁷,Fumic K.⁸,Barisic I.⁹,Reboun M.¹,Kulhanek J.¹⁰,Zeman J.¹¹⁰,Magner M.¹⁰

Affiliation:

1. Institute of Inherited Metabolic Disorders, First Faculty of Medicine; Charles University and General University Hospital; Prague Czech Republic

2. Department of Metabolism and Clinical Genetics; Mother and Child Health Care Institute of Serbia; Belgrade Serbia

3. School of Medicine; University of Belgrade; Belgrade Serbia

4. Department of Pediatrics; University Hospital Center; Zagreb Croatia

5. 2nd Department of Pediatrics; Comenius University Medical School in Bratislava University Children's Hospital; Bratislava Slovakia

6. 1st Department of Pediatrics; Comenius University Medical School in Bratislava University Children's Hospital; Bratislava Slovakia

7. Department of Pediatrics; University Hospital Center and University of Zagreb, School of Medicine; Zagreb Croatia

8. Department of Laboratory Diagnostics; University Hospital Centre Zagreb and School of Medicine; Zagreb Croatia

9. Department of Paediatrics; Children's Hospital Zagreb, School of Medicine; Zagreb Croatia

10. Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine; Charles University and General University Hospital; Prague Czech Republic

Funder

Charles University

Ministry of Health, Czech Republic

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12927/fullpdf

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3. X-chromosome inactivation analysis in different cell types and induced pluripotent stem cells elucidates the disease mechanism in a rare case of mucopolysaccharidosis type II in a female;Reboun;Folia Biol (Praha),2016

4. Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients;Froissart;Clin Genet,1998

5. Mucopolysaccharidosis type II: an update on mutation spectrum;Froissart;Acta Paediatr,2007

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