Minimum birth prevalence of mitochondrial respiratory chain disorders in children
Skladal, Daniela, Halliday, Jane, Thorburn, David R
Published in Brain (London, England : 1878) (01.08.2003)
Published in Brain (London, England : 1878) (01.08.2003)
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Journal Article
Propionic Acidemia Revisited: A Workshop Report
Sass, J. O., Hofmann, M., Skladal, D., Mayatepek, E., Schwahn, B., Sperl, W.
Published in Clinical pediatrics (01.11.2004)
Published in Clinical pediatrics (01.11.2004)
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Journal Article
Conference Proceeding
The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients
Skladal, D., Sudmeier, C., Konstantopoulou, V., Stöckler-Ipsiroglu, S., Plecko-Startinig, B., Bernert, G., Zeman, J., Sperl, W.
Published in Clinical pediatrics (01.10.2003)
Published in Clinical pediatrics (01.10.2003)
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Journal Article
Clinical and Experimental Results on Cardiac Troponin Expression in Duchenne Muscular Dystrophy
Hammerer-Lercher, Angelika, Erlacher, Petra, Bittner, Reginald, Korinthenberg, Rudolf, Skladal, Daniela, Sorichter, Stephan, Sperl, Wolfgang, Puschendorf, Bernd, Mair, Johannes
Published in Clinical chemistry (Baltimore, Md.) (01.03.2001)
Published in Clinical chemistry (Baltimore, Md.) (01.03.2001)
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Journal Article
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
Budde, S. M. S., Heuvel, L. P. W. J., Smeets, R. J. P., Skladal, D., Mayr, J. A., Boelen, C., Petruzzella, V., Papa, S., Smeitink, J. A. M.
Published in Journal of inherited metabolic disease (01.01.2003)
Published in Journal of inherited metabolic disease (01.01.2003)
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Journal Article
Different clinical aspects of debrancher deficiency myopathy
Kiechl, Stefan, Kohlendorfer, Ursula, Thaler, Claudia, Skladal, Daniela, Jaksch, Michaela, Obermaier-Kusser, Bert, Willeit, Johann
Published in Journal of Neurology, Neurosurgery and Psychiatry (01.09.1999)
Published in Journal of Neurology, Neurosurgery and Psychiatry (01.09.1999)
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Journal Article
Book Review
Odd-numbered long-chain fatty acids in propionic acidaemia
SPERL, W, MURR, C, SKLADAL, D, SASS, J. O, SUORMALA, T, BAUMGARTNER, R, WENDEL, U
Published in European journal of pediatrics (01.01.2000)
Published in European journal of pediatrics (01.01.2000)
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Journal Article
The therapeutic potential of oral creatine supplementation in muscle disease
Wyss, M., Felber, S., Skladal, D., Koller, A., Kremser, C., Sperl, W.
Published in Medical hypotheses (01.10.1998)
Published in Medical hypotheses (01.10.1998)
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Journal Article
Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome
Skladal, D, Sperl, W, Henry, H, Bachmann, C
Published in Journal of inherited metabolic disease (01.01.1996)
Published in Journal of inherited metabolic disease (01.01.1996)
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Journal Article
Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online
Muro, S, Rodríguez-Pombo, P, Pérez, B, Pérez-Cerdá, C, Desviat, L R, Sperl, W, Skladal, D, Sass, J O, Ugarte, M
Published in Human mutation (1999)
Published in Human mutation (1999)
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Journal Article
Parenteral administration of amino acids in disorders of branched-chain amino acid metabolism
Sperl, W, Skladal, D, Endres, W, Speer, G, Groke, K
Published in Journal of inherited metabolic disease (01.01.1994)
Published in Journal of inherited metabolic disease (01.01.1994)
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