Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry
Mercimek-Mahmutoglu, Saadet, Muehl, Adolf, Salomons, Gajja S., Neophytou, Birgit, Moeslinger, Dorothea, Struys, Eduard, Bodamer, Olaf A., Jakobs, Cornelis, Stockler-Ipsiroglu, Sylvia
Published in Molecular genetics and metabolism (01.04.2009)
Published in Molecular genetics and metabolism (01.04.2009)
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Journal Article
Methylation status in females with rett syndrome
Freilinger, Michael, Kalisch, David, Muehl, Adolf, Haas, Oskar, Moritz, Anne, Bodamer, Olaf
Published in Journal of child neurology (01.05.2007)
Published in Journal of child neurology (01.05.2007)
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Journal Article
Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry
Holub, Margareta, Tuschl, Karin, Ratschmann, Rene, Strnadová, Kristina Anna, Mühl, Adolf, Heinze, Georg, Sperl, Wolfgang, Bodamer, Olaf A.
Published in Clinica chimica acta (01.11.2006)
Published in Clinica chimica acta (01.11.2006)
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Journal Article
Development and Evaluation of Quality Control Dried Blood Spot Materials in Newborn Screening for Lysosomal Storage Disorders
De Jesus, Victor R, Zhang, X. Kate, Keutzer, Joan, Bodamer, Olaf A, Muhl, Adolf, Orsini, Joseph J, Caggana, Michele, Vogt, Robert F, Hannon, W. Harry
Published in Clinical chemistry (Baltimore, Md.) (01.01.2009)
Published in Clinical chemistry (Baltimore, Md.) (01.01.2009)
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Journal Article
The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives
Reuser, Arnold J., Verheijen, Frans W., Bali, Deeksha, van Diggelen, Otto P., Germain, Dominique P., Hwu, Wuh-Liang, Lukacs, Zoltan, Mühl, Adolf, Olivova, Petra, Piraud, Monique, Wuyts, Birgit, Zhang, Kate, Keutzer, Joan
Published in Molecular genetics and metabolism (01.09.2011)
Published in Molecular genetics and metabolism (01.09.2011)
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Journal Article
Newborn Screening for Pompe Disease by Measuring Acid α-Glucosidase Activity Using Tandem Mass Spectrometry
DAJNOKI, Angéla, MÜHL, Adolf, FEKETE, György, KEUTZER, Joan, ORSINI, Joe, DEJESUS, Victor, ZHANG, X. Kate, BODAMER, Olaf A
Published in Clinical chemistry (Baltimore, Md.) (01.10.2008)
Published in Clinical chemistry (Baltimore, Md.) (01.10.2008)
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Journal Article
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry
Dajnoki, Angéla, Fekete, György, Keutzer, Joan, Orsini, Joseph J., De Jesus, Victor R., Chien, Yin-Hsiu, Hwu, Wuh-Liang, Lukacs, Zoltan, Mühl, Adolf, Zhang, X. Kate, Bodamer, Olaf
Published in Clinica chimica acta (09.10.2010)
Published in Clinica chimica acta (09.10.2010)
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Journal Article
Newborn Screening for Lysosomal Storage Disorders in Hungary
Wittmann, Judit, Karg, Eszter, Turi, Sàndor, Legnini, Elisa, Wittmann, Gyula, Giese, Anne-Katrin, Lukas, Jan, Gölnitz, Uta, Klingenhäger, Michael, Bodamer, Olaf, Mühl, Adolf, Rolfs, Arndt
Published in JIMD Reports - Case and Research Reports, 2012/3 (01.01.2012)
Published in JIMD Reports - Case and Research Reports, 2012/3 (01.01.2012)
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Book Chapter
Journal Article
Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial
Freilinger, Michael, Dunkler, Daniela, Lanator, Ines, Item, Chike Bellarmine, Mühl, Adolf, Fowler, Brian, Bodamer, Olaf A
Published in Journal of developmental and behavioral pediatrics (01.07.2011)
Published in Journal of developmental and behavioral pediatrics (01.07.2011)
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Journal Article
Long-Term Stability of Amino Acids and Acylcarnitines in Dried Blood Spots
Strnadova, Kristina Anna, Holub, Margareta, Muhl, Adolf, Heinze, Georg, Ratschmann, Rene, Mascher, Hermann, Stockler-Ipsiroglu, Sylvia, Waldhauser, Franz, Votava, Felix, Lebl, Jan, Bodamer, Olaf A
Published in Clinical chemistry (Baltimore, Md.) (01.04.2007)
Published in Clinical chemistry (Baltimore, Md.) (01.04.2007)
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Journal Article
Transcobalamin II deficiency at birth
Ratschmann, Rene, Minkov, Milen, Kis, Ana, Hung, Christina, Rupar, Tony, Mühl, Adolf, Fowler, Brian, Nexo, Ebba, Bodamer, Olaf A.
Published in Molecular genetics and metabolism (01.11.2009)
Published in Molecular genetics and metabolism (01.11.2009)
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Journal Article
Low Levels of Asymmetric Dimethylarginine in Children with Diabetes Mellitus Type I Compared with Healthy Children
Huemer, Martina, MD, Simma, Burkhard, MD, Mayr, Dieter, MD, Mühl, Adolf, PhD, Rami, Birgit, MD, Schober, Edith, MD, Ulmer, Hanno, PhD, Zanier, Ulrike, MD, Bodamer, Olaf A., MD
Published in The Journal of pediatrics (01.04.2011)
Published in The Journal of pediatrics (01.04.2011)
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Journal Article
Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry
Legini, Elisa, Orsini, Joseph J., Hung, Christina, Martin, Monica, Showers, Amanda, Scarpa, Maurizio, Zhang, X Kate, Keutzer, Joan, Mühl, Adolf, Bodamer, Olaf A.
Published in Clinica chimica acta (30.01.2011)
Published in Clinica chimica acta (30.01.2011)
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Journal Article
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)
Iqbal, Furhan, Item, Chike B., Vilaseca, Maria A., Jalan, Anil, Mühl, Adolf, Couce, Maria L., Duat, Ana, Delgado, Maria P., Bosch, Joaquim, Puche, Alberto, Campistol, Jaume, Pineda, Mercè, Bodamer, Olaf A.
Published in Molecular genetics and metabolism (01.05.2010)
Published in Molecular genetics and metabolism (01.05.2010)
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Journal Article
Introduction of a Novel Prototype Bioartificial Liver Support System Utilizing Small Human Hepatocytes in Rotary Culture
Wurm, Martin, Lubei, Verena, Caronna, Marco, Hermann, Martin, Buttiglieri, Stefano, Bodamer, Olaf, Muehl, Adolf, Tetta, Ciro, Margreiter, Raimund, Hengster, Paul
Published in Tissue engineering. Part A (01.05.2009)
Published in Tissue engineering. Part A (01.05.2009)
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Journal Article
Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria
STRNADOVA, Kristina A, VOTAVA, Felix, LEBL, Jan, MÜHL, Adolf, ITEM, Chike, BODAMER, Olaf A, TORRESANI, Toni, BOUSKA, Ivan, WALDHAUSER, Franz, SPERL, Wolfgang
Published in European journal of pediatrics (01.01.2007)
Published in European journal of pediatrics (01.01.2007)
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Journal Article
Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria
Huemer, Martina, Födinger, Manuela, Bodamer, Olaf A., Mühl, Adolf, Herle, Marion, Weigmann, Claudia, Ulmer, Hanno, Stöckler-Ipsiroglu, Sylvia, Möslinger, Dorothea
Published in Molecular genetics and metabolism (01.05.2008)
Published in Molecular genetics and metabolism (01.05.2008)
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Journal Article
The main components of St John's Wort inhibit low-density lipoprotein atherogenic modification: A beneficial "side effect" of an OTC antidepressant drug?
Laggner, Hilde, Schreier, Sabine, Hermann, Marcela, Exner, Markus, Mühl, Adolf, Gmeiner, Bernhard M. K., Kapiotis, Stylianos
Published in Free radical research (2007)
Published in Free radical research (2007)
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Journal Article