Childhood Pompe disease: clinical spectrum and genotype in 31 patients
van Capelle, C I, van der Meijden, J C, van den Hout, J M P, Jaeken, J, Baethmann, M, Voit, T, Kroos, M A, Derks, T G J, Rubio-Gozalbo, M E, Willemsen, M A, Lachmann, R H, Mengel, E, Michelakakis, H, de Jongste, J C, Reuser, A J J, van der Ploeg, A T
Published in Orphanet journal of rare diseases (18.05.2016)
Published in Orphanet journal of rare diseases (18.05.2016)
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Sleep-disordered breathing and respiratory failure in acid maltase deficiency
Mellies, U, Ragette, R, Schwake, C, Baethmann, M, Voit, T, Teschler, H
Published in Neurology (09.10.2001)
Published in Neurology (09.10.2001)
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Journal Article
Childhood Pompe disease: Clinical spectrum and genotype in 31 children
van Spronsen, F, Jaeken, J, Rubio-Gozalbo, M, van der Meijden, J, Willemsen, M, Baethmann, M, Lachmann, R, van Capelle, C, Mengel, E, Voit, T, Michelakakis, H, van der Hout, J, Reuser, A, Kroos, M, van der Ploeg, A
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene
Budde, S.M.S., van den Heuvel, L.P.W.J., Janssen, A.J., Smeets, R.J.P., Buskens, C.A.F., DeMeirleir, L., Van Coster, R., Baethmann, M., Voit, T., Trijbels, J.M.F., Smeitink, J.A.M.
Published in Biochemical and biophysical research communications (18.08.2000)
Published in Biochemical and biophysical research communications (18.08.2000)
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Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency
Assmann, B, Göhlich, G, Baethmann, M, Wevers, R A, Van Gennip, A H, Van Kuilenburg, A B P, Dietrich, C, Wagner, L, Rotteveel, J J, Schaper, J, Mayatepek, E, Hoffmann, G F, Voit, T
Published in Neuropediatrics (01.02.2006)
Published in Neuropediatrics (01.02.2006)
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Natural History of Vanishing White Matter
Hamilton, Eline M. C., van der Lei, Hannemieke D. W., Lourenço, Charles M., Naidu, Sakkubai, Mierzewska, Hanna, de Vet, Henrica C. W., Uitdehaag, Bernard M. J., Lissenberg‐Witte, Birgit I., Aldhalaan, H., Alves, D., Appleton, R., Arslan, E.A., Baethmann, M., Banwell, B., Barbot, C., Bertini, E., Bley, A., Bollen, L., Boltshauser, E., Bower, S., Bravo Oro, A., Campos, M.M., Carr, L., Chan, A.K.J., Clarke, A., Crow, Y., Csányi, B., Del Rossario Aldao, M., D'Hooghe, M., El Helou, J, Fallon, P., Ferlini, A., Ferro, J.M., Fluss, J., Fontenelle, L., Garone, C., Geldhoff, M., Glamuzina, E., Góes, F., Gonzalez, V., Guarda, C., Gulati, S., Güler, S., Horvath, R., Jagadeesh, S., Kaczorowska, M., Kankirawatana, P., Karall, D., King, M.D., Krägeloh‐Mann, I., Lehman, A., Liptai, Z., Livingston, J.H., Maes, M., Majumdar, A., Mandel, H., McEntagart, M., Morton, R., Moura de Souza, C.F., Mundy, H., Naess, K., Naismith, K., Newton, R.W., Noetzel, M.J., O'Brien, B, Okálová, K., Østergaard, J.R., Pato Pato, A., Pera, J., Perlman, S., Philippart, M., Régal, L., Rice, C.M., Rossignol, E., Rubin, J.P., Salvi, F., Sampaio, H., Sánchez Herrero, J., Santos, E., Sessa, M., Sharma, S., Shearn, J., Shoffner, J., Skranes, J.S., Sparagana, S.P., Storey, E., Sztriha, L., Tatli, B., Tekturk, P., Tennison, M., Tirupathi, S., Toledo Bravo de Laguna, L., Tuna, M.A., Valverde, A., van Coster, R., Vasconcelos, M., Vogt, H., von Kleist‐Retzow, J.C., Wong, S.S.N., Yavuz, H.
Published in Annals of neurology (01.08.2018)
Published in Annals of neurology (01.08.2018)
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Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency
Baethmann, M, Wendel, U, Hoffmann, G F, Göhlich-Ratmann, G, Kleinlein, B, Seiffert, P, Blom, H, Voit, T
Published in Neuropediatrics (01.12.2000)
Published in Neuropediatrics (01.12.2000)
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Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus
Voit, T, Kutz, P, Leube, B, Neuen-Jacob, E, Schröder, J.M, Cavallotti, D, Vaccario, M.L, Schaper, J, Broich, P, Cohn, R, Baethmann, M, Göhlich-Ratmann, G, Scoppetta, C, Herrmann, R
Published in Neuromuscular disorders : NMD (2001)
Published in Neuromuscular disorders : NMD (2001)
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Leukoencephalopathy with Vanishing White Matter (VWM) Presenting with Early Myoclonic Encephalopathy (EME) and Rapid Progressive Internal Hydrocephalus
Breuer, K., Olze, A., Borggräfe, I., Gärtner, J., Leiz, S., Baethmann, M.
Published in Neuropediatrics (20.04.2016)
Published in Neuropediatrics (20.04.2016)
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Conference Proceeding
Compound Heterozygous COQ4 Missense Mutations Cause Coenzyme Q10 Deficiency Associated with Severe Infantile Epileptic Encephalopathy and Cerebellar Cysts
Leiz, S., Petrova, S., Ahting, U., Alhaddad, B., Baethmann, M., Freisinger, P., Haack, T. B.
Published in Neuropediatrics (20.04.2016)
Published in Neuropediatrics (20.04.2016)
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Conference Proceeding
Pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis in a 14-year-old girl probably associated with celiac disease
Leiz, S, Saadi, S, Poschmann, S, Stoffels, J, Baethmann, M
Published in Neuropediatrics (26.03.2013)
Published in Neuropediatrics (26.03.2013)
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Conference Proceeding
MCAP-Syndrom – eine Fallvorstellung
Hiener, U, Baethmann, M
Published in RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren (02.09.2013)
Published in RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren (02.09.2013)
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Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology
Tacke, Moritz, Rupp, Nina, Gerstl, Lucia, Heinen, Florian, Vill, Katharina, Bonfert, Michaela, Neubauer, Bernd Axel, Bast, Thomas, Borggraefe, Ingo, Baumeister, F A M, Baethmann, M, Schreiber‐Gollwitzer, B, Bentele, K, Blank, C, Held, J, Blank, H M, Liebrich, K, Bode, H, Braun, J, Bosch, F, Wagner, R, Brandl, U, Wetzel, K, Brockmann, K, Schlockwerder, C, Dahlem, P, Baudler, I, Ernst, J P, Mayer, H, Feldmann, E, Pattber‐Wolff, A, Fiedler, A, Sonnleitner, S, Gerigk, M, Heß, S, Feiereis, T, Hikel, C, Hoffmann, H G, Rickeshenrich, A, Kieslich, M, Dewitz, R, Baz Bartels, M, Klepper, J, Kleuker, S, Kluger, G, Kirsch, A, Koch, H, Meerpohl, U, Koch, W, Korinthenberg, R, Stehle‐Renner, B, Krois, I, Kühne, H, Weiß, C, Elkemann, U, Mandl, M, Friedl, A, Mause, U, Müller, M, Navratil, P, Iken, U, Opp, J, Walter, J, Penzien, J, Prietsch, V, Siegrist, B, Quattländer, A, Reuner, G, Schara, U, Shamdeen, M G, Struchholz, H, prinz, A, Wendker‐Magrabi, H, Stephani, U, Muhle, H, Carlsson, G, Straßburg, H M, Ottensmeier, H, Töpke, B, Tatsek, K, Trollmann, R, Poida‐Herzing, E, Tuschen‐Hofstätter, E, Menschig, M, Waltz, S, Pickartz, A, Weber, G, Gehnen, T, Wien, F U, Antemann, J, Wolff, M, Serra, E, Polster, T, Freitag, H, Sönmez, Ö, Rheinhardt, K, Traus, M, chröder, A, Hoovey, S, Navratil, C
Published in Acta neurologica Scandinavica (01.12.2018)
Published in Acta neurologica Scandinavica (01.12.2018)
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Journal Article
G.P.12 - Childhood Pompe disease: Clinical spectrum and genotype in 31 children
van Spronsen, F., Jaeken, J., Rubio-Gozalbo, M., van der Meijden, J., Willemsen, M., Baethmann, M., Lachmann, R., van Capelle, C., Mengel, E., Voit, T., Michelakakis, H., van der Hout, J., Reuser, A., Kroos, M., van der Ploeg, A.
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Effect of anticonvulsive treatment on neuropsychological performance in children with BECTS
Tacke, Moritz, MD, Gerstl, Lucia, MD, Heinen, Florian, MD, Heukaeufer, Isabel, Bonfert, Michaela, MD, Bast, Thomas, MD, Cornell, Sonia, PhD, Neubauer, Bernd Axel, MD, Borggraefe, Ingo, MD
Published in European journal of paediatric neurology (01.11.2016)
Published in European journal of paediatric neurology (01.11.2016)
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A, Seifert, Burkhardt, Froese, D Sean, Baumgartner, Matthias R, Dionisi-Vici, Carlo, Alcalde Martin, C, Baethmann, M, Ballhausen, D, Blasco-Alonso, J, Boy, N, Bueno, M, Burgos Peláez, R, Cerone, R, Chabrol, B, Chapman, K A, Couce, M L, Crushell, E, Dalmau Serra, J, Diogo, L, Ficicioglu, C, García Jimenez, M C, García Silva, M T, Gaspar, A M, Gautschi, M, González-Lamuño, D, Gouveia, S, Grünewald, S, Hendriksz, C, Janssen, M C H, Jesina, P, Koch, J, Konstantopoulou, V, Lavigne, C, Lund, A M, Martins, E G, Meavilla Olivas, S, Mention, K, Mochel, F, Mundy, H, Murphy, E, Paquay, S, Pedrón-Giner, C, Ruiz Gómez, M A, Santra, S, Schiff, M, Schwartz, I V, Scholl-Bürgi, S, Servais, A, Skouma, A, Tran, C, Vives Piñera, I, Walter, J, Weisfeld-Adams, J
Published in Journal of inherited metabolic disease (03.09.2018)
Published in Journal of inherited metabolic disease (03.09.2018)
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Fatal outcome in a case of recurrent acute necrotizing encephalopathy with RANBP2 gene mutation: importance and difficulty of an early MRI pattern recognition
Leiz, S, Kleinlein, B, Hiener, U, Wickede, M von, Baethmann, M, Peters, J
Published in Neuropediatrics (26.03.2013)
Published in Neuropediatrics (26.03.2013)
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Conference Proceeding