Search Results - "Scheibenreiter, Susanne"

Mutation Analysis In Patients with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency by Oppliger Tanja, Thony Beat, Leimbacher Walter, Scheibenreiter Susanne, Brandt Niels Jacob, Heizmann Claus W., Blau Nenad

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Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria by MÖSLINGER, Dorothea, STÖCKLER-IPSIROGLU, Sylvia, SCHEIBENREITER, Susanne, TIEFENTHALER, Monika, MÜHL, Adolf, SEIDL, Rainer, STROBL, Wolfgang, PLECKO, Barbara, SUORMALA, Terttu, BAUMGARTNER, E. Regula

“…Newborn screening for biotinidase deficiency (BD) provides prevention of neurological sequelae in patients with low residual enzyme activity by early treatment…”
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Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency : Endocrine studies in an affected girl by BIRNBACHER, R, SCHEIBENREITER, S, BLAU, N, BIEGLMAYER, C, FRISCH, H, WALDHAUSER, F

“…Severe tetrahydrobiopterin (BH4) deficiency is a naturally occurring model of cerebral catecholamine and serotonin shortage. Examination of the stimulated…”
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135 LONGTERM FOLLOW UP OF 16 CHILDREN AFFECTED WITH THE “LATE ONSET” VARIANT OF ARGININOSUCCINATE LYASE DEFICIENCY: NO IMPAIRMENT OF THE NEUROLOGICAL AND PSYCHOMOTORIC DEVELOPMENT by Koch, Sonja, Scheibenreiter, Susanne, Knoll, Elisabeth, Widhalm, Kurt

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Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency : no impairment of intellectual and psychomotor development during therapy by WIDHALM, K, KOCH, S, SCHEIBENREITER, S, KNOLL, E, COLOMBO, J. P, BACHMANN, C, THALHAMMER, O

“…To date, two variants of argininosuccinic acid lyase deficiency, the second most common enzymatic defect of the urea cycle, have been described. Most of the…”
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Hyperphenylalaninemia or phenylketonuria (PKU)? Problems of early distinction in 15 and 34 cases respectively by Scheibenreiter, S, Thalhammer, O

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Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals by Thalhammer, O, Lubec, G, Königshofer, H, Scheibenreiter, S, Coradello, H

“…Assuming adequate technique, determinations of intracellular phenylalanine and tyrosine concentrations in lymphocytes are very reproducible. The concentrations…”
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Prospective and retrospective examination of an easily applicable score to predict the probability of premature birth defined by weight by Thalhammer, O, Coradello, H, Pollak, A, Scheibenreiter, S, Simbruner, G

“…An easily applicable score to predict the risk of prematurity (Tab. I) (defined by weight) is examined prospectively (scoring during 6 th month of pregnancy)…”
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