Search Results - "Skopkova, M"

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    Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome by Stanik, J, Skopkova, M, Stanikova, D, Brennerova, K, Barak, L, Ticha, L, Hornova, J, Klimes, I, Gasperikova, D

    Published in Physiological research (01-01-2018)
    “…Recently, the genetic cause of several syndromic forms of glycemia dysregulation has been described. One of them, MEHMO syndrome, is a rare X-linked syndrome…”
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    Journal Article
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    Sulfonylurea vs insulin therapy in individuals with sulfonylurea‐sensitive permanent neonatal diabetes mellitus, attributable to a KCNJ11 mutation, and poor glycaemic control by Stanik, J., Dankovcikova, A., Barak, L., Skopkova, M., Palko, M., Divinec, J., Klimes, I., Gasperikova, D.

    Published in Diabetic medicine (01-03-2018)
    “…Background Therapy with sulfonylurea is preferable to insulin in the majority of individuals with KCNJ11 mutations, but not all of these people achieve target…”
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    Melanocortin-4 receptor gene mutations in obese Slovak children by Stanikova, D, Surova, M, Ticha, L, Petrasova, M, Virgova, D, Huckova, M, Skopkova, M, Lobotkova, D, Valentinova, L, Mokan, M, Stanik, J, Klimes, I, Gasperikova, D

    Published in Physiological research (01-01-2015)
    “…The most common etiology of non-syndromic monogenic obesity are mutations in gene for the Melanocortin-4 receptor (MC485) with variable prevalence in different…”
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    Age of obesity onset in MC4R mutation carriers by Stanikova, D, Surova, M, Buzga, M, Skopkova, M, Ticha, L, Petrasova, M, Huckova, M, Gabcova-Balaziova, D, Valentova, L, Mokan, M, Zavacka, I, Stanik, J, Klimes, I, Gasperikova, D

    Published in Endocrine regulations (Bratislava) (01-07-2015)
    “…The mutations in gene for the melanocortin-4 receptor (MC4R) are the most common etiology factors of monogenic obesity development. Recently, it has been shown…”
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    Journal Article
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    Sulfonylurea vs insulin therapy in individuals with sulfonylurea‐sensitive permanent neonatal diabetes mellitus, attributable to a KCNJ 11 mutation, and poor glycaemic control by Stanik, J., Dankovcikova, A., Barak, L., Skopkova, M., Palko, M., Divinec, J., Klimes, I., Gasperikova, D.

    Published in Diabetic medicine (01-03-2018)
    “…Abstract Background Therapy with sulfonylurea is preferable to insulin in the majority of individuals with KCNJ 11 mutations, but not all of these people…”
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    Journal Article
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    Nutrition in colonies by SKOPKOVA, M

    Published in Vyziva lidu (01-01-1951)
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    Clinical implications of the glucokinase impaired function - GCK MODY today by Hulín, J, Škopková, M, Valkovičová, T, Mikulajová, S, Rosoľanková, M, Papcun, P, Gašperíková, D, Staník, J

    Published in Physiological research (2020)
    “…Heterozygous inactivating mutations of the glucokinase (GCK) gene are causing GCK-MODY, one of the most common forms of the Maturity Onset Diabetes of the…”
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    Immunologic phenotype of a child with the MEHMO syndrome by Trochanová, I, Staníková, D, Škopková, M, Haštová, K, Gašperíková, D, Staník, J, Čižnár, P

    Published in Physiological research (16-11-2020)
    “…MEHMO syndrome is a rare X-linked syndrome characterized by Mental retardation, Epilepsy, Hypogenitalism, Microcephaly, and Obesity associated with the defect…”
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    Blood lipids as related to food intake, body composition, and cardiorespiratory efficiency in preschool children by Parizkova, J, Mackova, E, Mackova, J, Skopkova, M

    “…Extract: A group of 3-5-year-old children (n = 22) with a level of somatic development and physical fitness (modified Step test) that corresponded to a…”
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