Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland [0.03%]
经典的肾上腺皮质增生症由于21-羟化酶缺乏而在波兰新生儿筛查项目中被纳入的下一个疾病
Maria Ginalska-Malinowska
Maria Ginalska-Malinowska
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. The most common form of CAH is caused by mutations in CYP21A, the gene encoding the adrenal steroid 21-hydroxylas...
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland [0.03%]
经典的先天性肾上腺皮质增生症由于21-羟化酶缺乏而导致的将在波兰新生儿筛查计划中纳入的下一个疾病经典先天性肾上腺增生症因21-氢化酶不足所致-波兰新生儿筛查计划将纳入的下一个疾病
Maria Ginalska-Malinowska
Maria Ginalska-Malinowska
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. The most common form of CAH is caused by mutations in CYP21A, the gene encoding the adrenal steroid 21-hydroxylas...
[Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process] [0.03%]
醛脱氢酶缺乏症的临床表现、发病机制及诊断过程
Patryk Lipiński,Teresa Stradomska,Anna Tylki-Szymańska
Patryk Lipiński
Transaldolase deficiency is a rare inborn autosomal recessive error of the pentose phosphate pathway that, to date, has been diagnosed in 33 patients, including 4 from Poland. The aim of this manuscript was to present the clinical presentat...
[Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process] [0.03%]
醛脱氢酶缺乏症的临床表现、发病机制及诊断过程
Patryk Lipiński,Teresa Stradomska,Anna Tylki-Szymańska
Patryk Lipiński
Transaldolase deficiency is a rare inborn autosomal recessive error of the pentose phosphate pathway that, to date, has been diagnosed in 33 patients, including 4 from Poland. The aim of this manuscript was to present the clinical presentat...
Aleksandra Stasiak,Katarzyna Niewiadomska-Jarosik,Piotr Kędziora
Aleksandra Stasiak
Preexcitation syndromes are becoming a more often detected disease in the pediatric population. Their essential feature is the presence of additional paths / pathways in the heart, through which the impulse is conducted faster than physiolo...
Aleksandra Stasiak,Katarzyna Niewiadomska-Jarosik,Piotr Kędziora
Aleksandra Stasiak
Preexcitation syndromes are becoming a more often detected disease in the pediatric population. Their essential feature is the presence of additional paths / pathways in the heart, through which the impulse is conducted faster than physiolo...
Hanna Czajka
Hanna Czajka
Vaccinations in Poland and other industrialized countries have been in the firing line for more than two decades. Members of the "anti-vaccine movement" and alternative medicine supporters are openly reluctant to this form of preventing inf...
Hanna Czajka
Hanna Czajka
Vaccinations in Poland and other industrialized countries have been in the firing line for more than two decades. Members of the "anti-vaccine movement" and alternative medicine supporters are openly reluctant to this form of preventing inf...
Agnieszka Magiera,Elżbieta Sochacka-Tatara,Agata Sowa et al.
Agnieszka Magiera et al.
Aim: The aim of this study was to assess the relationship between body weight and the quality of life among adolescents in Krakow, Poland. Material and me...
Agnieszka Magiera,Elżbieta Sochacka-Tatara,Agata Sowa et al.
Agnieszka Magiera et al.
Aim: The aim of this study was to assess the relationship between body weight and the quality of life among adolescents in Krakow, Poland. Material and me...