Výsledky vyhledávání

Prevalence of inhibitor formation in a cohort of haemophilic children exposed to several products of various purities

Autor: A. Kolokithas, H Platokouki, S Aronis, A Mitsika, Z. Kapsimali, E Adamtziki

Publikováno v: Haemophilia : the official journal of the World Federation of Hemophilia. 1(4)

Summary. To evaluate the frequency and potency of inhibitor formation based on the product used, we retrospectively reviewed the records of 99 children with various types and severity of haemophilia (haemophilia A 82, severe 46; haemophilia B 10, sev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a5bef62b9a5b131539f6331640bac4b
https://pubmed.ncbi.nlm.nih.gov/27214630

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Gene conversions are a common cause of von Willebrand disease

Autor: E. Adamtziki, A. Harbeck-Seu, Tobias Obser, Meganathan Kannan, Harsh Kumar, Renu Saxena, Ulrich Budde, M Jaiprakash, Pramod K. Gupta, Reinhard Schneppenheim, I. Wedekind, Florian Oyen

Publikováno v: British Journal of Haematology. 130:752-758

von Willebrand disease (VWD), the most common inherited bleeding disorder, is very heterogeneous, both in its phenotype and genotype. One particular molecular mechanism of VWD is due to recombination events between the true gene and its pseudogene on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b838e19fec631a17dd702f25aa72f29e
https://doi.org/10.1111/j.1365-2141.2005.05660.x

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Haemostatic variables in phenylketonuric children under dietary treatment

Autor: H Platokouki, Evangelos D. Papakonstantinou, E Adamtziki, A. Bargeliotis, Kleopatra H. Schulpis, S Aronis

Publikováno v: Journal of Inherited Metabolic Disease. 19:603-609

Classical phenylketonuria (PKU) (McKusick 261600) is an inborn error of metabolism treated by a controlled low-phenylalanine (Phe) diet started as soon as possible in the first days of life. Such a diet can be achieved with vegetable protein and can

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a9b86970b957e2d313a37859362076c
https://doi.org/10.1007/bf01799833

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Genetic defects in von Willebrand disease type 3 in Indian and Greek patients

Autor: U. Budde, Pramod K. Gupta, E. Adamtziki, Renu Saxena, Florian Oyen, Reinhard Schneppenheim, Tobias Obser

Publikováno v: Blood cells, moleculesdiseases. 41(2)

Background Von Willebrand disease type 3 VWD is an autosomal-recessively inherited severe bleeding disorder with a homogeneous phenotype on the basis of very heterogeneous genotypes. Many different molecular defects have been reported to date. We tri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4c6fc074071d9071197943b70024d49
https://pubmed.ncbi.nlm.nih.gov/18485763

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Mutations and polymorphisms in genes affecting hemostasis proteins and homocysteine metabolism in children with arterial ischemic stroke

Autor: Helen Platokouki, Anna Komitopoulou, Z. Kapsimali, S Aronis, H. Pergantou, E Adamtziki

Publikováno v: Cerebrovascular diseases (Basel, Switzerland). 22(1)

Background: The pathogenesis of thrombosis in childhood seems to be multifactorial implicating genetic and environmental factors. Aim: To compare the distributions of mutations/polymorphisms in genes affecting hemostasis (factor V Leiden – FVL, FV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::306f160f5176bcc3297f8ce840273844
https://pubmed.ncbi.nlm.nih.gov/16567932

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