A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations

Tekijä Wang, Raymond Y.
Julkaisussa Int J Neonatal Screen (2020)

Aortic Root Dilatation in Mucopolysaccharidosis I–VII

Tekijä Bolourchi, Meena, Renella, Pierangelo, Wang, Raymond Y.
Julkaisussa Int J Mol Sci (2016)

Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis

Tekijä Lew, Valerie, Pena, Louis, Edwards, Robert, Wang, Raymond Y.
Julkaisussa JIMD Rep (2017)

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases

Tekijä Evans, William R.H., Nicoli, Elena-Raluca, Wang, Raymond Y., Movsesyan, Nina, Platt, Frances M.
Julkaisussa Wellcome Open Res (2017)

Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis

Tekijä Hastings, Caroline, Vieira, Camilo, Liu, Benny, Bascon, Cyrus, Gao, Claire, Wang, Raymond Y., Casey, Alicia, Hrynkow, Sharon
Julkaisussa Orphanet J Rare Dis (2019)

Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population

Tekijä Haller, Christine, Song, Wenjie, Cimms, Tricia, Chen, Chao‐Yin, Whitley, Chester B., Wang, Raymond Y., Bauer, Mislen, Harmatz, Paul
Julkaisussa JIMD Rep (2019)

The Carotid Intima-Media Thickness and Arterial Stiffness of Pediatric Mucopolysaccharidosis Patients Are Increased Compared to Both Pediatric and Adult Controls

Tekijä Wang, Raymond Y., Rudser, Kyle D., Dengel, Donald R., Braunlin, Elizabeth A., Steinberger, Julia, Jacobs, David R., Sinaiko, Alan R., Kelly, Aaron S.
Julkaisussa Int J Mol Sci (2017)

Carotid Intima-Media Thickness is Increased in Patients With Mucopolysaccharidoses

Tekijä Wang, Raymond Y., Covault, Kelly K., Halcrow, Eileen M., Gardner, Audrey J., Cao, Xiaoling, Newcomb, Robert L., Dauben, Richard D., Chang, Anthony C.
Julkaistu 2011

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I

Tekijä Khalid, Omar, Vera, Moin U., Gordts, Philip L., Ellinwood, N. Matthew, Schwartz, Philip H., Dickson, Patricia I., Esko, Jeffrey D., Wang, Raymond Y.
Julkaisussa PLoS One (2016)

CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness

Tekijä Huang, Jeffrey Y., Kan, Shih-Hsin, Sandfeld, Emilie K., Dalton, Nancy D., Rangel, Anthony D., Chan, Yunghang, Davis-Turak, Jeremy, Neumann, Jon, Wang, Raymond Y.
Julkaisussa Sci Rep (2020)

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation

Tekijä Lieu, Michelle T, Ng, Bobby G, Rush, Jeffrey S, Wood, Tim, Basehore, Monica J, Hegde, Madhuri, Chang, Richard C, Abdenur, Jose E, Freeze, Hudson H, Wang, Raymond Y
Julkaistu 2013

Carotid Intima-Media Thickness Is Increased In Patients With Treated Mucopolysaccharidoses Types I and II, And Correlates With Arterial Stiffness

Tekijä Wang, Raymond Y., Braunlin, Elizabeth A., Rudser, Kyle D., Dengel, Donald R., Metzig, Andrea M., Covault, Kelly K., Polgreen, Lynda E., Shapiro, Elsa, Steinberger, Julia, Kelly, Aaron S.
Julkaistu 2013

Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study

Tekijä Wang, Raymond Y., Monuki, Edwin S., Powers, James, Schwartz, Phillip H., Watkins, Paul A., Shi, Yang, Moser, Ann, Shrier, David A., Waterham, Hans R., Nugent, Diane J., Abdenur, Jose E.
Julkaisussa J Inherit Metab Dis (2014)

Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs

Tekijä Simonaro, Calogera M., Tomatsu, Shunji, Sikora, Tracy, Kubaski, Francyne, Frohbergh, Michael, Guevara, Johana M., Wang, Raymond Y., Vera, Moin, Kang, Jennifer L., Smith, Lachlan J., Schuchman, Edward H., Haskins, Mark E.
Julkaisussa PLoS One (2016)

Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease

Tekijä Wang, Raymond Y., Rudser, Kyle D., Dengel, Donald R., Evanoff, Nicholas, Steinberger, Julia, Movsesyan, Nina, Garrett, Robert, Christensen, Katherine, Boylan, Deborah, Braddock, Stephen R., Shinawi, Marwan, Gan, Qi, Montaño, Adriana M.
Julkaisussa Orphanet J Rare Dis (2020)

The emerging phenotype of long-term survivors with infantile Pompe disease

Tekijä Prater, Sean N., Banugaria, Suhrad G., DeArmey, Stephanie M., Botha, Eleanor G., Stege, Erin M., Case, Laura E., Jones, Harrison N., Phornphutkul, Chanika, Wang, Raymond Y., Young, Sarah P., Kishnani, Priya S.
Julkaistu 2012

Intra-articular Enzyme Replacement Therapy with rhIDUA is Safe, Well-Tolerated, and Reduces Articular GAG Storage in the Canine Model of Mucopolysaccharidosis Type I

Tekijä Wang, Raymond Y, Aminian, Afshin, McEntee, Michael F, Kan, Shih-Hsin, Simonaro, Calogera M, Lamanna, William, Lawrence, Roger, Ellinwood, N. Matthew, Guerra, Catalina, Le, Steven Q, Dickson, Patricia I, Esko, Jeffrey D
Julkaistu 2014

Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes

Tekijä Simon, Mariella T, Eftekharian, Shaya S, Stover, Alexander E., Osborne, Aaron F., Braffman, Bruce H., Chang, Richard C., Wang, Raymond Y., Steenari, Maija R., Tang, Sha, Hwu, Paul Wuh-Liang, Taft, Ryan J., Benke, Paul J., Abdenur, Jose E.
Julkaisussa Mol Genet Metab (2018)

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency()

Tekijä Simon, Mariella T., Ng, Bobby G., Friederich, Marisa W., Wang, Raymond Y., Boyer, Monica, Kircher, Martin, Collard, Renata, Buckingham, Kati J., Chang, Richard, Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Van Hove, Johan L.K., Freeze, Hudson H., Abdenur, Jose E.
Julkaisussa Mitochondrion (2017)

Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease

Tekijä Kazi, Zoheb B., Desai, Ankit K., Berrier, Kathryn L., Troxler, R. Bradley, Wang, Raymond Y., Abdul-Rahman, Omar A., Tanpaiboon, Pranoot, Mendelsohn, Nancy J., Herskovitz, Eli, Kronn, David, Inbar-Feigenberg, Michal, Ward-Melver, Catherine, Polan, Michelle, Gupta, Punita, Rosenberg, Amy S., Kishnani, Priya S.
Julkaisussa JCI Insight (2017)