Search Results - "Scholl‐Bürgi, S."

Ketogenic diets in patients with inherited metabolic disorders by Scholl-Bürgi, S., Höller, A., Pichler, K., Michel, M., Haberlandt, E., Karall, D.

“…Ketogenic diets (KDs) are diets that bring on a metabolic condition comparable to fasting, usually without catabolism. Since the mid-1990s such diets have been…”
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Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C by Höller, A., Albrecht, U., Baumgartner Sigl, S., Zöggeler, T., Ramoser, G., Bernar, B., Karall, D., Scholl-Bürgi, S.

“…Niemann-Pick disease type C (NP-C) is a neurodegenerative disease for which only palliative treatment exists, and only miglustat is effective in stabilizing…”
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Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders by Kuseyri, O., Weissbach, A., Bruggemann, N., Klein, C., Giżewska, M., Karall, D., Scholl-Bürgi, S., Romanowska, H., Krzywińska-Zdeb, E., Monavari, A. A., Knerr, I., Yapıcı, Z., Leuzzi, V., Opladen, T.

“…Introduction Inborn errors of tetrahydrobiopterin (BH 4 ) biosynthesis or recycling are a group of very rare neurometabolic diseases. Following growing…”
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Mutation analysis in 54 propionic acidemia patients by Kraus, J. P., Spector, E., Venezia, S., Estes, P., Chiang, P. W., Creadon-Swindell, G., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Ugarte, M., Sperl, W., Superti-Furga, A., Schwab, K. O., Grünert, S. C., Sass, J. O.

“…Deficiency of propionyl CoA carboxylase (PCC), a dodecamer of alpha and beta subunits, causes inherited propionic acidemia. We have studied, at the molecular…”
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Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency by Scholl-Bürgi, S., Baumgartner Sigl, S., Häberle, J., Haberlandt, E., Rostásy, K., Ertl, C., Eichinger-Öttl, U., Heinz-Erian, P., Karall, D.

“…Summary We report the CSF and plasma amino acid concentrations and their ratios in a male patient with arginase1 deficiency with an unusual early presentation…”
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Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation by Scholl-Bürgi, S, Haberlandt, E, Gotwald, T, Albrecht, U, Baumgartner Sigl, S, Rauchenzauner, M, Rostásy, K, Karall, D

“…Propionic acidemia caused by propionyl-CoA carboxylase deficiency frequently leads to neurologic complications. Herein we report an eleven-year-old patient…”
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Chronic immune stimulation correlates with reduced phenylalanine turnover by Neurauter, G, Schröcksnadel, K, Scholl-Bürgi, S, Sperner-Unterweger, B, Schubert, C, Ledochowski, M, Fuchs, D

“…Neuropsychiatric symptoms like mood changes and depression are common in patients with chronic inflammatory disorders such as infections, autoimmune diseases…”
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Chronic Immune Stimulation May Cause Moderate Impairment of Phenylalanine 4-hydroxylase by Scholl-Bürgi S, Schroecksnadel S, Jenny M, Karall D, Fuchs D

“…Phenylalanine (4)-hydroxylase (PAH, E.C. 1.14.16.1) is located mainly in liver and converts amino acid phenylalanine (Phe) to tyrosine (Tyr). In 'classical'…”
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The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a ‘ketotic hyperglycinaemia’ by Scholl-Bürgi, S., Korman, S. H., Applegarth, D. A., Karall, D., Lillquist, Y., Heinz-Erian, P., Davidson, A. G. F., Haberlandt, E., Sass, J. O.

“…Summary The characteristic elevation of plasma glycine concentrations observed in propionic acidaemia (PA) and other ‘ketotic hyperglycinaemias’ has been…”
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Assessment of the Clinical Impact of a Liver-Specific, BCAA-Enriched Diet in Major Liver Surgery by Krapf, J., Schuhbeck, A., Wendel, T., Fritz, J., Scholl-Bürgi, S., Bösmüller, C., Oberhuber, R., Margreiter, C., Maglione, M., Stättner, S., Messner, F., Berchtold, V., Braunwarth, E., Primavesi, F., Cardini, B., Resch, T., Karall, D., Öfner, D., Margreiter, R., Schneeberger, S.

“…The relationship between nutrition and liver disease is relevant for the outcome after surgery. Patients with liver cirrhosis characteristically show…”
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Propionic acidemia: neonatal versus selective metabolic screening by Grünert, S. C., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O., Sass, J. O.

“…Background Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS…”
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Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies by Spreiz, A., Haberlandt, E., Baumann, M., Baumgartner Sigl, S., Fauth, C., Gautsch, K., Karall, D., Janetschek, C., Rostasy, K., Scholl-Bürgi, S., Zotter, S., Utermann, G., Zschocke, J., Kotzot, D.

“…Epilepsy is a common finding in patients with chromosomal macro‐ and micro‐rearrangements but only few aberrations show a constant pattern of seizures. DNA…”
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Decreased Urinary Sodium-to-urinary Creatinine Ratio Identifies Sodium Depletion in Pediatric Acute Gastroenteritis by Heinz-Erian, P, Akdar, Z, Haerter, B, Waldegger, S, Giner, T, Scholl-Bürgi, S, Mueller, T

“…In acute gastroenteritis (AG) fecal losses may cause depletion of sodium (NaD) which may not be recognized because of normal plasma Na (pNa) concentrations. We…”
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Effect of valproic acid treatment on body composition, leptin and the soluble leptin receptor in epileptic children by Rauchenzauner, M, Haberlandt, E, Scholl-Bürgi, S, Karall, D, Schoenherr, E, Tatarczyk, T, Engl, J, Laimer, M, Luef, G, Ebenbichler, C.F

“…Summary Purpose The aim of the study was to determine the influence of valproic acid (VPA) treatment on leptin, the soluble leptin receptor (sOB-R), the…”
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Gyrate Atrophy in 2 Siblings - Ophthalmological Findings and A New Mutation by Michel, M, Blatsios, G, Scholl-Bürgi, S, Entenmann, A, Wernstedt, A, Zschocke, A, Pichler, K, Höller, A, Karall, D

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Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment by Karall, D., Mair, G., Albrecht, U., Niedermayr, K., Karall, T., Schobersberger, W., Scholl-Bürgi, S.

“…Exercise and subsequent catabolism is a potential trigger for creatine kinase (CK) concentration increase (rhabdomyolysis) in patients with LCHADD, therefore…”
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Epilepsy in patients with propionic acidemia by Haberlandt, E, Canestrini, C, Brunner-Krainz, M, Möslinger, D, Mussner, K, Plecko, B, Scholl-Bürgi, S, Sperl, W, Rostásy, K, Karall, D

“…Propionic acidemia (PA) is an autosomal recessively inherited defect of propionyl-CoA carboxylase with an incidence of approximately 1:50 000. There are few…”
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Severe anemia in 3 toddlers with gastric lactobezoar by Klein-Franke, A, Kropshofer, G, Gassner, I, Meister, B, Salvador, C, Scholl-Bürgi, S, Mueller, T, Heinz-Erian, P

“…Anemia in toddlers may result from many disorders including excessive feeding with cow's milk. Another sequel of age-inadequate cow's milk nutrition may be…”
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Cytotoxic not vasogenic edema is the cause for stroke-like episodes in propionic acidemia by Karall, D, Haberlandt, E, Schimmel, M, Schocke, M, Gautsch, K, Albrecht, U, Baumgartner Sigl, S, Scholl-Bürgi, S

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Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy by Haberlandt, E, Scholl-Bürgi, S, Neuberger, J, Felber, S, Gotwald, T, Sauter, R, Rostasy, K, Karall, D, Korinthenberg, R

“…Abstract Metachromatic leukodystrophy (MLD) is a progressive white matter disease caused by arylsulfatase A deficiency. Demyelination in the nervous system is…”
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