Newborn Screening for Pompe Disease
Bodamer, Olaf A, Scott, C Ronald, Giugliani, Roberto
Published in Pediatrics (Evanston) (01.07.2017)
Published in Pediatrics (Evanston) (01.07.2017)
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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia
Tuschl, Karin, Meyer, Esther, Valdivia, Leonardo E, Zhao, Ningning, Dadswell, Chris, Abdul-Sada, Alaa, Hung, Christina Y, Simpson, Michael A, Chong, W K, Jacques, Thomas S, Woltjer, Randy L, Eaton, Simon, Gregory, Allison, Sanford, Lynn, Kara, Eleanna, Houlden, Henry, Cuno, Stephan M, Prokisch, Holger, Valletta, Lorella, Tiranti, Valeria, Younis, Rasha, Maher, Eamonn R, Spencer, John, Straatman-Iwanowska, Ania, Gissen, Paul, Selim, Laila A M, Pintos-Morell, Guillem, Coroleu-Lletget, Wifredo, Mohammad, Shekeeb S, Yoganathan, Sangeetha, Dale, Russell C, Thomas, Maya, Rihel, Jason, Bodamer, Olaf A, Enns, Caroline A, Hayflick, Susan J, Clayton, Peter T, Mills, Philippa B, Kurian, Manju A, Wilson, Stephen W
Published in Nature communications (27.05.2016)
Published in Nature communications (27.05.2016)
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Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals
Wang, Raymond Y., Bodamer, Olaf A., Watson, Michael S., Wilcox, William R.
Published in Genetics in medicine (01.05.2011)
Published in Genetics in medicine (01.05.2011)
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From Genotype to Phenotype-A Review of Kabuki Syndrome
Barry, Kelly K, Tsaparlis, Michaelangelo, Hoffman, Deborah, Hartman, Deborah, Adam, Margaret P, Hung, Christina, Bodamer, Olaf A
Published in Genes (29.09.2022)
Published in Genes (29.09.2022)
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Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
Wraith, J. Edmond, Scarpa, Maurizio, Beck, Michael, Bodamer, Olaf A., De Meirleir, Linda, Guffon, Nathalie, Meldgaard Lund, Allan, Malm, Gunilla, Van der Ploeg, Ans T., Zeman, Jiri
Published in European journal of pediatrics (01.03.2008)
Published in European journal of pediatrics (01.03.2008)
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Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
Grünert, Sarah C, Müllerleile, Stephanie, De Silva, Linda, Barth, Michael, Walter, Melanie, Walter, Kerstin, Meissner, Thomas, Lindner, Martin, Ensenauer, Regina, Santer, René, Bodamer, Olaf A, Baumgartner, Matthias R, Brunner-Krainz, Michaela, Karall, Daniela, Haase, Claudia, Knerr, Ina, Marquardt, Thorsten, Hennermann, Julia B, Steinfeld, Robert, Beblo, Skadi, Koch, Hans-Georg, Konstantopoulou, Vassiliki, Scholl-Bürgi, Sabine, van Teeffelen-Heithoff, Agnes, Suormala, Terttu, Sperl, Wolfgang, Kraus, Jan P, Superti-Furga, Andrea, Schwab, Karl Otfried, Sass, Jörn Oliver
Published in Orphanet journal of rare diseases (10.01.2013)
Published in Orphanet journal of rare diseases (10.01.2013)
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Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?
Peake, Roy W A, Marsden, Deborah L, Bodamer, Olaf A, Gelb, Michael H, Millington, David S, Wijburg, Frits
Published in Clinical chemistry (Baltimore, Md.) (01.11.2016)
Published in Clinical chemistry (Baltimore, Md.) (01.11.2016)
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A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure
Hung, Christina Y, Volkmar, Barbara, Baker, James D, Bauer, Johann W, Gussoni, Emanuela, Hainzl, Stefan, Klausegger, Alfred, Lorenzo, Jose, Mihalek, Ivana, Rittinger, Olaf, Tekin, Mustafa, Dallman, Julia E, Bodamer, Olaf A
Published in PloS one (11.12.2017)
Published in PloS one (11.12.2017)
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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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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
Orsini, Joseph J., Martin, Monica M., Showers, Amanda L., Bodamer, Olaf A., Zhang, X. Kate, Gelb, Michael H., Caggana, Michele
Published in Clinica chimica acta (16.08.2012)
Published in Clinica chimica acta (16.08.2012)
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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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B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement
Guillard, Maïlys, Morava, Eva, MD, PhD, de Ruijter, Jorg, Roscioli, Tony, MD, PhD, Penzien, Johann, MD, PhD, van den Heuvel, Lambert, PhD, Willemsen, Michel A., MD, PhD, de Brouwer, Arjan, PhD, Bodamer, Olaf A., MD, PhD, Wevers, Ron A., PhD, Lefeber, Dirk J., PhD
Published in The Journal of pediatrics (01.12.2011)
Published in The Journal of pediatrics (01.12.2011)
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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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Analysis of lyso-globotriaosylsphingosine in dried blood spots
Johnson, Britt, Mascher, Hermann, Mascher, Daniel, Legnini, Elisa, Hung, Christina Y, Dajnoki, Angela, Chien, Yin-Hsiu, Maródi, László, Hwu, Wuh-Liang, Bodamer, Olaf A
Published in Annals of laboratory medicine (01.07.2013)
Published in Annals of laboratory medicine (01.07.2013)
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Targeting neurological abnormalities in lysosomal storage diseases
van Gool, Raquel, Tucker-Bartley, Anthony, Yang, Edward, Todd, Nicholas, Guenther, Frank, Goodlett, Benjamin, Al-Hertani, Walla, Bodamer, Olaf A., Upadhyay, Jaymin
Published in Trends in pharmacological sciences (Regular ed.) (01.06.2022)
Published in Trends in pharmacological sciences (Regular ed.) (01.06.2022)
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Insights into the genotype–phenotype relationship of ocular manifestations in Kabuki syndrome
Shah, Suraj S., Fulton, Anne, Jabroun, Mireille, Brightman, Diana, Simpson, Brittany N., Bodamer, Olaf A.
Published in American journal of medical genetics. Part A (01.05.2023)
Published in American journal of medical genetics. Part A (01.05.2023)
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