Rezultati - Olaf A. Bodamer

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  1. 1
    Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

    Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism od Carmen Stromberger, Olaf A. Bodamer, Sylvia Stöckler‐Ipsiroglu

    Izdano 2003
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  2. 2
    Newborn Screening for Pompe Disease

    Newborn Screening for Pompe Disease od Olaf A. Bodamer, C. Ronald Scott, Roberto Giugliani

    Izdano 2017
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  3. 3
    Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

    Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) od Olaf A. Bodamer, Maurizio Scarpa, Christina Hung, Tom Pulles, Roberto Giugliani

    Izdano 2017
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  4. 4
    Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

    Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity od Nikolas Boy, Jana Herınger, Renate Brackmann, Olaf A. Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting

    Izdano 2017
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  5. 5
    From Genotype to Phenotype—A Review of Kabuki Syndrome

    From Genotype to Phenotype—A Review of Kabuki Syndrome od Kelly K. Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P Adam, Christina Hung, Olaf A. Bodamer

    Izdano 2022
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  6. 6
    Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders

    Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disord... od Joseph J. Orsini, Monica Martin, Amanda Showers, Olaf A. Bodamer, X. Kate Zhang, Michael H. Gelb, Michele Caggana

    Izdano 2012
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  7. 7
    Newborn Screening for Pompe Disease by Measuring Acid α-Glucosidase Activity Using Tandem Mass Spectrometry

    Newborn Screening for Pompe Disease by Measuring Acid α-Glucosidase Activity Using Tandem Mass Spectrometry od Angéla Dajnoki, Adolf Mühl, György Fekete, Joan Keutzer, Joe Orsini, Victor DeJesus, X. Kate Zhang, Olaf A. Bodamer

    Izdano 2008
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  8. 8
    Position paper of the undiagnosed diseases network international with respect to the establishment of the journal Rare-Open research in rare diseases

    Position paper of the undiagnosed diseases network international with respect to the establishment of the journal Rare-Open research in rare diseases od William A. Gahl, Olaf A. Bodamer, Helene Cederroth, Roberto Giugliani, Eric W. Klee, Manuel Posada de la Paz, Olaf Rieß, Domenica Taruscio

    Izdano 2023
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  9. 9
    Long-Term Stability of Amino Acids and Acylcarnitines in Dried Blood Spots

    Long-Term Stability of Amino Acids and Acylcarnitines in Dried Blood Spots od Kristina Anna Strnadová, Margareta Holub, Adolf Mühl, Georg Heinze, Rene Ratschmann, Hermann Mascher, Sylvia Stöckler‐Ipsiroglu, Franz Waldhauser, Felix Votava, Jan Lebl, Olaf A. Bodamer

    Izdano 2007
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  10. 10
    Development and Evaluation of Quality Control Dried Blood Spot Materials in Newborn Screening for Lysosomal Storage Disorders

    Development and Evaluation of Quality Control Dried Blood Spot Materials in Newborn Screening for Lysosomal Storage Disorders od Víctor R. De Jesús, X. Kate Zhang, Joan Keutzer, Olaf A. Bodamer, Adolf Mühl, Joseph J. Orsini, Michele Caggana, Robert F. Vogt, W. Harry Hannon

    Izdano 2008
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  11. 11
    Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

    Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy od J. E. Wraith, Maurizio Scarpa, Michael Beck, Olaf A. Bodamer, Linda De Meırleır, Nathalie Guffon, Allan M. Lund, Gunilla Malm, Ans T. van der Ploeg, J Zeman

    Izdano 2007
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  12. 12
    Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model

    Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model od Manshu Tang, Anwer Siddiqi, Benjamin L. Witt, Tatiana Yuzyuk, Britt Johnson, Nisa Fraser, Wyman Chen, Rafael G. Rascon, Xue Yin, Harish Goli, Olaf A. Bodamer, Kent Lai

    Izdano 2014
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  13. 13
    Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

    Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray od Yao‐Shan Fan, Xiaomei Ouyang, Jinghong Peng, Stephanie Sacharow, Mustafa Tekin, Deborah Barbouth, Olaf A. Bodamer, Roman Yusupov, C. Navarrete, Ana Helena Heller, Sérgio D.J. Pena

    Izdano 2013
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  14. 14
    The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus

    The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus od Joseph Muenzer, Olaf A. Bodamer, Barbara K. Burton, Lorne A. Clarke, Gudrun Schulze Frenking, Roberto Giugliani, Simon Jones, María Verónica Muñoz Rojas, Maurizio Scarpa, Michael Beck, Paul Harmatz

    Izdano 2011
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  15. 15
    Injury type-dependent differentiation of NG2 glia into heterogeneous astrocytes

    Injury type-dependent differentiation of NG2 glia into heterogeneous astrocytes od Amber R. Hackett, Stephanie L. Yahn, Kirill A. Lyapichev, Angéla Dajnoki, Do-Hun Lee, Mario Rodriguez, Natasha Cox Cammer, Ji Pak, Saloni T. Mehta, Olaf A. Bodamer, Vance Lemmon, Jae K. Lee

    Izdano 2018
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  16. 16
    Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

    Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation od Tomáš Honzík, Markéta Tesařová, Johannes A. Mayr, Hana Hansíková, Pavel Ješina, Olaf A. Bodamer, Johannes Koch, Martin Magner, Peter Freisinger, Martina Huemer, Olga Kostková, Rudy Van Coster, Stanislav Kmoch, J Houštěk, Wolfgang Sperl, J Zeman

    Izdano 2010
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  17. 17
    Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease

    Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease od Rohini Sidhu, Pamela Kell, Dennis J. Dietzen, Nicole Y. Farhat, An Dang, Forbes D. Porter, Elizabeth Berry‐Kravis, Charles H. Vite, Janine Reunert, Thorsten Marquardt, Roberto Giugliani, Charles Marques Lourenço, Olaf A. Bodamer, Raymond Wang, Ellen Plummer, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang

    Izdano 2020
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  18. 18
    Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

    Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes od Klaus Schmitz‐Abe, Qifei Li, Samantha M. Rosen, Neeharika Nori, Jill A. Madden, Casie A. Genetti, Monica H. Wojcik, Sadhana Ponnaluri, Cynthia S. Gubbels, Jonathan Picker, Anne O’Donnell‐Luria, Timothy W. Yu, Olaf A. Bodamer, Catherine A. Brownstein, Alan H. Beggs, Pankaj B. Agrawal

    Izdano 2019
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  19. 19
    Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

    Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield od Cynthia S. Gubbels, Grace E. VanNoy, Jill A. Madden, Deborah Copenheaver, Sandra Yang, Monica H. Wojcik, Nina B. Gold, Casie A. Genetti, Joan M. Stoler, Richard B. Parad, S. A. Roumiantsev, Olaf A. Bodamer, Alan H. Beggs, Jane Juusola, Pankaj B. Agrawal, Timothy W. Yu

    Izdano 2019
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  20. 20
    Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

    Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure od Minke H. de Ru, Q. Teunissen, Johanna H. van der Lee, Michael Beck, Olaf A. Bodamer, Lorne A. Clarke, Carla E. M. Hollak, Shuan-Pei Lin, M. Rojas, Gregory M. Pastores, Julian Raiman, Maurizio Scarpa, Eileen P. Treacy, Anna Tylki‐Szymańska, J. E. Wraith, J Zeman, Frits A. Wijburg

    Izdano 2012
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