Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study
Bilder, Deborah A., Kobori, Joyce A., Cohen-Pfeffer, Jessica L., Johnson, Erin M., Jurecki, Elaina R., Grant, Mitzie L.
Published in Molecular genetics and metabolism (01.05.2017)
Published in Molecular genetics and metabolism (01.05.2017)
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The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease
Banugaria, Suhrad G, Prater, Sean N, Ng, Yiu-Ki, Kobori, Joyce A, Finkel, Richard S, Ladda, Roger L, Chen, Yuan-Tsong, Rosenberg, Amy S, Kishnani, Priya S
Published in Genetics in medicine (01.08.2011)
Published in Genetics in medicine (01.08.2011)
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MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance
Dobyns, William B., Aldinger, Kimberly A., Ishak, Gisele E., Mirzaa, Ghayda M., Timms, Andrew E., Grout, Megan E., Dremmen, Marjolein H.G., Schot, Rachel, Vandervore, Laura, van Slegtenhorst, Marjon A., Wilke, Martina, Kasteleijn, Esmee, Lee, Arthur S., Barry, Brenda J., Chao, Katherine R., Szczałuba, Krzysztof, Kobori, Joyce, Hanson-Kahn, Andrea, Bernstein, Jonathan A., Carr, Lucinda, D’Arco, Felice, Miyana, Kaori, Okazaki, Tetsuya, Saito, Yoshiaki, Sasaki, Masayuki, Das, Soma, Wheeler, Marsha M., Bamshad, Michael J., Nickerson, Deborah A., Engle, Elizabeth C., Verheijen, Frans W., Doherty, Dan, Mancini, Grazia M.S.
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Journal Article
Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients
Kaplan, Frederick S., Kobori, Joyce A., Orellana, Carmen, Calvo, Inmaculada, Rosello, Monica, Martinez, Francisco, Lopez, Berta, Xu, Meiqi, Pignolo, Robert J., Shore, Eileen M., Groppe, Jay C.
Published in American journal of medical genetics. Part A (01.10.2015)
Published in American journal of medical genetics. Part A (01.10.2015)
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Journal Article
Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects
El-Hattab, Ayman W., Li, Fang-Yuan, Shen, Joseph, Powell, Berkley R., Bawle, Erawati V., Adams, Darius J., Wahl, Erica, Kobori, Joyce A., Graham, Brett, Scaglia, Fernando, Wong, Lee-Jun
Published in Genetics in medicine (01.01.2010)
Published in Genetics in medicine (01.01.2010)
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Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease
Banugaria, Suhrad G, Prater, Sean N, McGann, Judeth K, Feldman, Jonathan D, Tannenbaum, Jesse A, Bailey, Carrie, Gera, Renuka, Conway, Robert L, Viskochil, David, Kobori, Joyce A, Rosenberg, Amy S, Kishnani, Priya S
Published in Genetics in medicine (01.02.2013)
Published in Genetics in medicine (01.02.2013)
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Journal Article
Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses
Kazi, Zoheb B, Prater, Sean N, Kobori, Joyce A, Viskochil, David, Bailey, Carrie, Gera, Renuka, Stockton, David W, McIntosh, Paul, Rosenberg, Amy S, Kishnani, Priya S
Published in JCI insight (21.07.2016)
Published in JCI insight (21.07.2016)
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Journal Article
Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: A newly recognized overgrowth syndrome?
Adam, Margaret P., Kobori, Joyce A., Cusmano-Ozog, Kristina, Chen, Kelly M., Hoyme, H. Eugene
Published in American journal of medical genetics. Part A (01.03.2008)
Published in American journal of medical genetics. Part A (01.03.2008)
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Journal Article
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients
Gibson, K M, Christensen, E, Jakobs, C, Fowler, B, Clarke, M A, Hammersen, G, Raab, K, Kobori, J, Moosa, A, Vollmer, B, Rossier, E, Iafolla, A K, Matern, D, Brouwer, O F, Finkelstein, J, Aksu, F, Weber, H P, Bakkeren, J A, Gabreels, F J, Bluestone, D, Barron, T F, Beauvais, P, Rabier, D, Santos, C, Lehnert, W
Published in Pediatrics (Evanston) (01.04.1997)
Published in Pediatrics (Evanston) (01.04.1997)
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Bortezomib: A solution to the challenge of antibodies in diseases treated with therapeutic proteins?
Banugaria, Suhrad, Sean, Prater, Nampoothiri, Sheela, Feldman, Jonathan, Kobori, Joyce, McGann, Judeth, Koeberl, Dwight, Kishnani, Priya
Published in Molecular genetics and metabolism (01.02.2011)
Published in Molecular genetics and metabolism (01.02.2011)
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Journal Article
Early Neonatal Diagnosis of Long-Chain 3-Hydroxyacyl Coenzyme A Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies
Hintz, Susan R., Matern, Dietrich, Strauss, Arnold, Bennett, Michael J., Hoyme, H.Eugene, Schelley, Susan, Kobori, Joyce, Colby, Christopher, Lehman, Norman L., Enns, Gregory M.
Published in Molecular genetics and metabolism (01.02.2002)
Published in Molecular genetics and metabolism (01.02.2002)
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Journal Article
Abnormalities of the visual system in infants exposed to cocaine
Good, W V, Ferriero, D M, Golabi, M, Kobori, J A
Published in Ophthalmology (Rochester, Minn.) (01.03.1992)
Published in Ophthalmology (Rochester, Minn.) (01.03.1992)
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Facial features of infants exposed prenatally to cocaine
Fries, M H, Kuller, J A, Norton, M E, Yankowitz, J, Kobori, J, Good, W V, Ferriero, D, Cox, V, Donlin, S S, Golabi, M
Published in Teratology (Philadelphia) (01.11.1993)
Published in Teratology (Philadelphia) (01.11.1993)
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