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 von 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.

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Glycine N‐methyltransferase deficiency: A new patient with a novel mutation von Augoustides‐Savvopoulou, P., Luka, Z., Karyda, S., Stabler, S. P., Allen, R. H., Patsiaoura, K., Wagner, C., Mudd, S. H.

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227 Plasma citrulline levels in cystic fibrosis patients von Ioannou, H.P, Fotoulaki, M, Augoustides-Savvopoulou, P

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Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders von Barić, Ivo, Staufner, Christian, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Dobbelaere, Dries, Grünert, Sarah C., Opladen, Thomas, Petković Ramadža, Danijela, Rakić, Bojana, Wedell, Anna, Blom, Henk J.

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Ethylmalonic Encephalopathy: Clinical and Biochemical Observations von Zafeiriou, D. I., Augoustides-Savvopoulou, P., Haas, D., Smet, J., Triantafyllou, P., Vargiami, E., Tamiolaki, M., Gombakis, N., van Coster, R., Sewell, A. C., Vianey-Saban, C., Gregersen, N.

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Acid sphingomyelinase-deficient Niemann-Pick disease: Novel findings in a Greek child von Fotoulaki, M, Schuchman, E. H, Simonaro, C. M, Augoustides-Savvopoulou, P, Michelakakis, H, Panagopoulou, P, Varlamis, G, Nousia-Arvanitakis, S

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Plasma amino acid levels in cystic fibrosis patients von Ioannou, H.P, Fotoulaki, M, Vasilaki, K, Augoustides-Savvopoulou, P

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Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry von Molema, Femke, Gleich, Florian, Burgard, Peter, Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Barić, Ivo, Lund, Allan M., Kölker, Stefan, Williams, Monique, Hörster, F., Jelsig, A.M., Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides‐Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco‐Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes i, Dionisi‐Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Karall, D., Scholl‐Bürgi, S., Lachmann, R., De Laet, C., Matsumoto, S., Meirleir, L., Mühlhausen, C., Schiff, M., Peña‐Quintana, L., Djordjevic, M., Sarajlija, A., Sykut‐Cegielska, J., Wisniewska, A., Leao‐Teles, E., Alves, S., Vara, R., Vives‐Pinera, I., Ortega, D.G., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C.

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A case of ethylmalonic encephalopathy presented with leucocytosis, thrombocytosis and petechiae von Pavlou, E, Savvopoulou, P, Traggianidis, A, Kouskouras, G, Athanassiadou, F

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Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth re... von Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Lund, Allan M., Rizopoulos, Dimitris, Kölker, Stefan, Williams, Monique, Hörster, F., Jelsig, A.M., de Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides-Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco-Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes I., Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Karall, D., Scholl-Bürgi, S., De Laet, C., Matsumoto, S., de Meirleir, L., Schiff, M., Peña-Quintana, L., Djordjevic, M., Sarajlija, A., Sykut-Cegielska, J., Wisniewska, A., Leao-Teles, E., Alves, S., Vara, R., Vives-Pinera, I., Gil-Ortega, D., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C., Barić, I.

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Mutation analysis a prerequisite for prenatal diagnosis of l-2-hydroxyglutaric aciduria? von Augoustides-Savvopoulou, P., Salomons, G.S., Dotis, J., Roilides, E., Leontsini, M., Jakobs, C., Panteliadis, C.

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Hashimoto's enchephalopathy von Augoustides-Savvopoulou, P, Mylonas, I, Bairaktaris, C

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Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family von Augoustides‐Savvopoulou, P., Mylonas, I., Sewell, A. C., Rosenblatt, D. S.

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Efficacy of captopril therapy in cystinuria lithiasis. A case report von Printza, N, Koukourgianni, F, Papathanasiou, A, Augoustides-Savvopoulou, P, Papachristou, F

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Plasma Citrulline Levels in Preterm Neonates with Necrotizing Enterocolitis von Ioannou, H, Diamanti, E, Tsampoura, Z, Drossou-Agakidou, V, Avgoustides-Savvopoulou, P

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Neurophysiologic Evaluation of Long-Term Desferrioxamine Therapy in Beta-Thalassemia Patients von Zafeiriou, Dimitrios I., Kousi, Afroditi A., Tsantali, Chaido T., Kontopoulos, Eleftherios E., Augoustidou-Savvopoulou, Persa A., Tsoubaris, Panagiotis D., Athanasiou, Miranta A.

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DNA‐based prenatal diagnosis for very‐long‐ chain acyl‐CoA dehydrogenase deficiency von Andresen, B. S., Olpin, S., Kvittingen, E. A., Augoustides‐Savvopoulou, P., Lindhout, D., Halley, D. J. J., Vianey‐Saban, C., Wanders, R. J. A., IJlst, L., Schroeder, L. D., Bolund, L., Gregersen, N.

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Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies von Zafeiriou, Dimitrios I, Anastasiou, Athanasia L, Michelakaki, Eleni M, Augoustidou-Savvopoulou, Persa A, Katzos, George S, Kontopoulos, Eleftherios E

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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 von 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, Matthias R

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Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B) von Zafeiriou, Dimitrios I., Savvopoulou-Augoustidou, Persephone A., Sewell, Adrian, Papadopoulou, Freddie, Badouraki, Maria, Vargiami, Efi, Gombakis, Nikos P., Katzos, George S.

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