Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Elzbieta, Marszał"'
Autor:
Ewa Emich-Widera, Beata Sarecka-Hujar, Janusz Wendorff, Elzbieta Marszał, Iwona Zak, Joanna Jachowicz-Jeszka, Ilona Kopyta
Publikováno v:
Journal of Child Neurology. 24:1262-1267
Ischemic stroke is a very rare and multifactorial disease in children. The aim of the study was to analyze the relationship between the methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism and stroke in Polish children and to observe wheth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50b3af4b24520114dff489ba0c8acdfa
https://doi.org/10.1177/0883073809333527
https://doi.org/10.1177/0883073809333527
Autor:
Martin Gencik, Ewa Jamroz, Aleksandra Jezela Stanek, Beata Kazek, Elzbieta Marszał, Katarzyna Wojaczyńska-Stanek
Publikováno v:
Journal of Child Neurology. 22:1256-1259
Pantothenate kinase—associated neurodegeneration (PKAN) is a progressive neurodegenerative disorder with autosomal recessive inheritance. The major symptoms of PKAN include the onset before the age of 20 years, progressive pyramidal and extrapyrami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55de77b05543e7c15aed72ae6ffe48a1
https://doi.org/10.1177/0883073807307092
https://doi.org/10.1177/0883073807307092
Publikováno v:
Journal of Child Neurology. 21:1068-1073
Huntington disease is a dominantly inherited, neurodegenerative disorder, usually with onset in the fourth to fifth decade of life but in a small proportion of patients before the age of 20 years. The early-onset form, juvenile Huntington disease, is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e842eb41ac23a52c5d3ea839c21bd3fc
https://doi.org/10.1177/7010.2006.00244
https://doi.org/10.1177/7010.2006.00244
Publikováno v:
Journal of Child Neurology. 17:315-319
Friedreich's ataxia is one of the most frequent hereditary ataxias of childhood. The disease is inherited in an autosomal recessive mode. The current state of knowledge concerning genetics, pathophysiology, pathology, clinical course, differential di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a7f3bc3fc2c9ac90d4d15f3a52792a4e
https://doi.org/10.1177/088307380201700501
https://doi.org/10.1177/088307380201700501
Autor:
Elzbieta Marszał, Jacek Pilch, Robert Krawczyk, Ewa Jamroz, Halina Jablecka-Deja, Ewa Kluczewska
Publikováno v:
Journal of Child Neurology. 15:401-405
In 135 children (aged 3 months to 15 years) with structural defects of the central nervous system found on magnetic resonance imaging, agenesis of the corpus callosum was evident in 7. The etiology of agenesis of the corpus callosum has been establis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d15787b59e2ce6625f417edcb0c74976
https://doi.org/10.1177/088307380001500609
https://doi.org/10.1177/088307380001500609
Publikováno v:
Medical science monitor : international medical journal of experimental and clinical research. 16(9)
The aim of the study was to assess diurnal melatonin secretion in children with refractory epilepsy (N=74) as compared to children without epileptic seizures (N=37) and to compare melatonin secretion in children with focal and generalized refractory
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5257b68e930473881784f8313682df0f
https://pubmed.ncbi.nlm.nih.gov/20802409
https://pubmed.ncbi.nlm.nih.gov/20802409
Publikováno v:
Wiadomosci lekarskie (Warsaw, Poland : 1960). 63(1)
The ischemic stroke is a rare problem in childhood. Cardiac problems, arteriopathy, coaguopathies or dyslipidemia are traditional risk factors for stroke. The aim of the present study was to assess the relations between levels of lipids and fibrinoge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c6282c2b6e5bda04fa1bc35503368eea
https://pubmed.ncbi.nlm.nih.gov/20701026
https://pubmed.ncbi.nlm.nih.gov/20701026
Autor:
Barbara Kalina-Faska, Justyna Paprocka, Maria Kalina, Ewa Jamroz, Ewa Małecka-Tendera, Elzbieta Marszał, Antoni Pyrkosz
Publikováno v:
Clinical genetics. 78(3)
Adams-Oliver syndrome (AOS) is a rare genetic condition in which the main diagnostic criteria are terminal transverse limb defects and aplasia cutis congenita. Within the spectra of the clinical phenotype of AOS, anthropometric abnormalities have als
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c724f44f983f52e3cc6e2abdd979bd69
https://pubmed.ncbi.nlm.nih.gov/20560985
https://pubmed.ncbi.nlm.nih.gov/20560985
Publikováno v:
Wiadomosci lekarskie (Warsaw, Poland : 1960). 62(1)
The maternal phenylketonuria (MPKU) syndrome is an example of biochemical teratogenesis caused by high phenylalanine concentrations in serum of a pregnant woman (over 360 micromol/L). Active transport through the placenta increases 1.5-fold the pheny
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::78711d51b5168823db39e446a0ec7544
https://pubmed.ncbi.nlm.nih.gov/19817251
https://pubmed.ncbi.nlm.nih.gov/19817251
Autor:
Justyna, Paprocka, Ewa, Jamroz, Ewa, Głuszkiewicz, Andrzej, Klimczak, Ewa, Kluczewska, Elzbieta, Marszał
Publikováno v:
Wiadomosci lekarskie (Warsaw, Poland : 1960). 61(7-9)
Back pain and pain of the surrounding structures leads to significant diagnostic and therapeutic difficulties which result from a complex pathomechanism. They are the symptom of a large number of pathologic processes that may to a varying extent cont
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9ce5fe87f5c340b75c043a916518f0c8
https://pubmed.ncbi.nlm.nih.gov/19172829
https://pubmed.ncbi.nlm.nih.gov/19172829