Newborn Screening for Lysosomal Storage Disorders

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

Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients

por Kritzer, Amy, Siddharth, Aishwarya, Leestma, Kate, Bodamer, Olaf
Publicado no Mol Genet Metab Rep (2019)

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)

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

por Bodamer, Olaf, Scarpa, Maurizio, Hung, Christina, Pulles, Tom, Giugliani, Roberto
Publicado no Mol Genet Metab Rep (2017)

The tale of two genes: from next-generation sequencing to phenotype

por Rohanizadegan, Mersedeh, Siddharath, Aishwarya, Retterer, Kyle, Hung, Christina, Bodamer, Olaf
Publicado no Cold Spring Harb Mol Case Stud (2020)

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life

por Luperchio, Teresa Romeo, Applegate, Carolyn D., Bodamer, Olaf, Bjornsson, Hans Tomas
Publicado no Mol Genet Genomic Med (2019)

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

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

por Boy, Nikolas, Heringer, Jana, Brackmann, Renate, Bodamer, Olaf, Seitz, Angelika, Kölker, Stefan, Harting, Inga
Publicado no Orphanet J Rare Dis (2017)

The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases

por Ebrahimi‐Fakhari, Darius, Hildebrandt, Clara, Davis, Peter E., Rodan, Lance H., Anselm, Irina, Bodamer, Olaf
Publicado no Mov Disord Clin Pract (2018)

Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?

por Peake, Roy W.A., Marsden, Deborah L., Bodamer, Olaf A., Gelb, Michael H., Millington, David S., Wijburg, Frits
Publicado no Clin Chem (2016)

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

Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study

por Almontashiri, Naif A. M., Zha, Li, Young, Kim, Law, Terence, Kellogg, Mark D., Bodamer, Olaf A., Peake, Roy W. A.
Publicado no Sci Rep (2020)

Author Correction: Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study

por Almontashiri, Naif A. M., Zha, Li, Young, Kim, Law, Terence, Kellogg, Mark D., Bodamer, Olaf A., Peake, Roy W. A.
Publicado no Sci Rep (2020)

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

Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cell...

por Li, Luyuan, Paz, Ana C., Wilky, Breelyn A., Johnson, Britt, Galoian, Karina, Rosenberg, Andrew, Hu, Guozhi, Tinoco, Gabriel, Bodamer, Olaf, Trent, Jonathan C.
Publicado no PLoS One (2015)

Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure

por Rohanizadegan, Mersedeh, Abdo, Sara M., O'Donnell-Luria, Anne, Mihalek, Ivana, Chen, Peggy, Sanders, Marilyn, Leeman, Kristen, Cho, Megan, Hung, Christina, Bodamer, Olaf
Publicado no Cold Spring Harb Mol Case Stud (2017)

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

The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus

por Muenzer, Joseph, Bodamer, Olaf, Burton, Barbara, Clarke, Lorne, Frenking, Gudrun Schulze, Giugliani, Roberto, Jones, Simon, Rojas, Maria Verónica Muñoz, Scarpa, Maurizio, Beck, Michael, Harmatz, Paul
Publicado em 2011

Newborn Screening for Lysosomal Storage Disorders in Hungary

por 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
Publicado em 2012

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

por Fan, Yao-Shan, Ouyang, Xiaomei, Peng, Jinghong, Sacharow, Stephanie, Tekin, Mustafa, Barbouth, Deborah, Bodamer, Olaf, Yusupov, Roman, Navarrete, Christina, Heller, Ana H, Pena, Sérgio DJ
Publicado em 2013