Search Results - "Brennerova, K"

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

“…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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Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data by Huemer, M., Bürer, C., Ješina, P., Kožich, V., Landolt, M. A., Suormala, T., Fowler, B., Augoustides- Savvopoulou, P., Blair, E., Brennerova, K., Broomfield, A., De Meirleir, L., Gökcay, G., Hennermann, J., Jardine, P., Koch, J., Lorenzl, S., Lotz-Havla, A. S., Noss, J., Parini, R., Peters, H., Plecko, B., Ramos, F. J., Schlune, A., Tsiakas, K., Zerjav Tansek, M., Baumgartner, M. R.

“…Background The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of…”
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GAI - distinct genotype and phenotype characteristics in reported Slovak patients by Lisyova, J, Petrovic, R, Jurickova, K, Brennerova, K, Urbanova, D, Behulova, D, Bzduch, V, Chandoga, J

“…The clinical, biochemical and genetic findings in two Slovak patients with glutaric aciduria type I (GAI) are presented. GAI is a rare autosomal recessive…”
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MON-P287: Carglumic Acid in the Treatment of Hyperammonaemic Crisis in Patients with Propionic Aciduria – Our Experiences by Brennerova, K., Bzduch, V., Behulova, D., Hlavata, A., Skoknova, M., Podracka, L.

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Contribution of oligosaccharide investigation for diagnostics of lysosomal storage diseases in Slovakia by Salingova, A., Behulova, D., Brennerova, K., Hlavata, A., Saligova, J., Halova, K., Chandoga, J., Mucha, J., Matulova, M.

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The thirteen new cases of isolated ATP synthase deficiency due to TMEM70 mutation in Slovakia: Clinical and biochemical findings by Behulova, D., Sebova, C., Tarnokova, S., Brennerova, K., Dolnikova, D., Zeman, J., Tesarova, M., Potocnakova, L., Chandoga, J.

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