Search Results - "Karall, D"

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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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop by Spiekerkoetter, U, Lindner, M, Santer, R, Grotzke, M, Baumgartner, M. R, Boehles, H, Das, A, Haase, C, Hennermann, J. B, Karall, D, de Klerk, H, Knerr, I, Koch, H. G, Plecko, B, Röschinger, W, Schwab, K. O, Scheible, D, Wijburg, F. A, Zschocke, J, Mayatepek, E, Wendel, U

“…Published data on treatment of fatty acid oxidation defects are scarce. Treatment recommendations have been developed on the basis of observations in 75…”
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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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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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Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop by Spiekerkoetter, U, Lindner, M, Santer, R, Grotzke, M, Baumgartner, M. R, Boehles, H, Das, A, Haase, C, Hennermann, J. B, Karall, D, de Klerk, H, Knerr, I, Koch, H. G, Plecko, B, Röschinger, W, Schwab, K. O, Scheible, D, Wijburg, F. A, Zschocke, J, Mayatepek, E, Wendel, U

“…At present, long-chain fatty acid oxidation (FAO) defects are diagnosed in a number of countries by newborn screening using tandem mass spectrometry. In the…”
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Mammary candidiasis: molecular-based detection of Candida species in human milk samples by Mutschlechner, W., Karall, D., Hartmann, C., Streiter, B., Baumgartner-Sigl, S., Orth-Höller, D., Lass-Flörl, C.

“…In this prospective and monocentric study, we investigated the performance of a commercialized real-time polymerase chain reaction (RT-PCR) test system for the…”
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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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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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Interleukin 1 blockade withcanakinumab for Hyper IGD syndrome (HIDS) by Brunnner, J, Binder, E, Karall, D, Zschocke, J, Fauth, C

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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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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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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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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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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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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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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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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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Serum phenylalanine concentrations in patients post trauma and burn correlate to neopterin concentrations by Scholl-Buergi, S, Neurauter, G, Karall, D, Fuchs, D

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