Newborn Screening for Lysosomal Storage Disorders

Por Peake, Roy W. A., Bodamer, Olaf A.
Publicado no J Pediatr Genet (2017)

Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes

Por Orenstein, Marissa, Barbouth, Deborah, Bodamer, Olaf A, Weinreb, Neal J
Publicado no Orphanet J Rare Dis (2014)

Analysis of Acid Sphingomyelinase Activity in Dried Blood Spots Using Tandem Mass Spectrometry

Por Legnini, Elisa, Orsini, Joe J., Mühl, Adolf, Johnson, Britt, Dajnoki, Angela, Bodamer, Olaf A
Publicado em 2012

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...

Por Orsini, Joseph J., Martin, Monica M., Showers, Amanda L., Bodamer, Olaf A., Zhang, X. Kate, Gelb, Michael H., Caggana, Michele
Publicado em 2012

Bridging the Gaps Between the Histopathological and Demographic Risk Factors of Preterm Birth in a Unique Miami Inner-City Population

Por Veerapen, Muthu Kumar, Pelaez, Liset, Potter, JoNell Efantis, Duthely, Lunthita, Birusingh, Rhea, Rampersaud, Evadnie, Bodamer, Olaf A, Rodriguez, Maria Matilde
Publicado em 2014

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots

Por Johnson, Britt, Mascher, Hermann, Mascher, Daniel, Legnini, Elisa, Hung, Christina Y, Dajnoki, Angela, Chien, Yin-Hsiu, Maródi, László, Hwu, Wuh-Liang, Bodamer, Olaf A
Publicado em 2013

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

Por Tang, Manshu, Siddiqi, Anwer, Witt, Benjamin, Yuzyuk, Tatiana, Johnson, Britt, Fraser, Nisa, Chen, Wyman, Rascon, Rafael, Yin, Xue, Goli, Harish, Bodamer, Olaf A, Lai, Kent
Publicado em 2014

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

Por 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
Publicado em 2007

Mutations in RIT1 cause Noonan syndrome – additional functional evidence and expanding the clinical phenotype

Por Koenighofer, Martin, Hung, Christina Y., McCauley, Jacob L., Dallman, Julia, Back, Emma J., Mihalek, Ivana, Gripp, Karen W., Sol-Church, Katia, Rusconi, Paolo, Zhang, Zhaiyi, Shi, Geng-Xian, Andres, Douglas A., Bodamer, Olaf A.
Publicado no Clin Genet (2015)

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

Por de Ru, Minke H, Teunissen, Quirine GA, van der Lee, Johanna H, Beck, Michael, Bodamer, Olaf A, Clarke, Lorne A, Hollak, Carla E, Lin, Shuan-Pei, Rojas, Maria-Verónica Muñoz, Pastores, Gregory M, Raiman, Julian A, Scarpa, Maurizio, Treacy, Eileen P, Tylki-Szymanska, Anna, Wraith, J Edmond, Zeman, Jiri, Wijburg, Frits A
Publicado em 2012

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Por 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
Publicado em 2013

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Por 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.
Publicado no Nat Commun (2016)