المؤلفون: McIntosh, Paul T, Hobson-Webb, Lisa D, Kazi, Zoheb B, Prater, Sean N, Banugaria, Suhrad G, Austin, Stephanie, Wang, Raymond, Enterline, David S, Frush, Donald P, Kishnani, Priya S

المصدر: Molecular Genetics and Metabolism. 123(2)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Rare Diseases, Digestive Diseases, Neurosciences, Neurodegenerative, Brain Disorders, Clinical Research, Liver Disease, Biomedical Imaging, Neurological, Adolescent, Brain, Child, Child, Preschool, Enzyme Replacement Therapy, Female, Glycogen Storage Disease Type II, Humans, Infant, Male, Neuroimaging, Treatment Outcome, alpha-Glucosidases, Pompe disease, Glycogen storage disease type II, Neuromuscular diseases, Central nervous system, Blood-brain barrier, Enzyme replacement therapy, MRI, CT, rhGAA, Alglucosidase alfa, Acid maltase deficiency, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5255b84s

المؤلفون: 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

المصدر: JCI Insight. 2(16)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Orphan Drug, Prevention, Rare Diseases, Clinical Research, Pediatric, Inflammatory and immune system, Genetics, Immunology, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2ww9w9x5

المؤلفون: Kishnani, Priya S, Dickson, Patricia I, Muldowney, Laurie, Lee, Jessica J, Rosenberg, Amy, Abichandani, Rekha, Bluestone, Jeffrey A, Burton, Barbara K, Dewey, Maureen, Freitas, Alexandra, Gavin, Derek, Griebel, Donna, Hogan, Melissa, Holland, Stephen, Tanpaiboon, Pranoot, Turka, Laurence A, Utz, Jeanine J, Wang, Yow-Ming, Whitley, Chester B, Kazi, Zoheb B, Pariser, Anne R

المصدر: Molecular Genetics and Metabolism. 117(2)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Orphan Drug, Rare Diseases, Development of treatments and therapeutic interventions, 5.1 Pharmaceuticals, Inflammatory and immune system, Animals, Enzyme Replacement Therapy, Humans, Hydrolases, Immune Tolerance, Lysosomal Storage Diseases, Recombinant Proteins, Immune tolerance, Lysosomal storage diseases, Enzyme replacement therapy, Inborn errors of metabolism, Neutralizing antibodies, Orphan drugs, Rare diseases, Clinical Sciences, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/59n944ht

المؤلفون: Kazi, Zoheb B., Desai, Ankit K., Troxler, R. Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Rizzo, William B., Scherer, Katalin, Abdul-Rahman, Omar, Tanpaiboon, Pranoot, Nampoothiri, Sheela, Gupta, Neerja, Feigenbaum, Annette, Niyazov, Dmitriy M., Sherry, Langston, Segel, Reeval, McVie-Wylie, Alison, Sung, Crystal, Joseph, Alexandra M., Richards, Susan, Kishnani, Priya S.

المصدر: Genetics in Medicine ; volume 21, issue 4, page 887-895 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-018-0270-7
http://www.nature.com/articles/s41436-018-0270-7.pdf
http://www.nature.com/articles/s41436-018-0270-7
https://api.elsevier.com/content/article/PII:S1098360021009679?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021009679?httpAccept=text/plain

المؤلفون: Desai, Ankit K., Kazi, Zoheb B., Bali, Deeksha S., Kishnani, Priya S.

المساهمون: Sanofi Genzyme, Genzyme Sanofi, Baebies Inc., Biomarin, Alexion Inc, Valerion Therapeutics, Shire Pharmaceuticals, Amicus Therapeutics

المصدر: Molecular Genetics and Metabolism Reports ; volume 20, page 100475 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2019.100475
https://api.elsevier.com/content/article/PII:S2214426919300734?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426919300734?httpAccept=text/plain

المؤلفون: Chan, Justin, Desai, Ankit K, Kazi, Zoheb B, Corey, Kaitlyn, Austin, Stephanie, Hobson-Webb, Lisa D, Case, Laura E, Jones, Harrison N, Kishnani, Priya S

مصطلحات موضوعية: Respiratory Muscles, Humans, Glycogen Storage Disease Type II, alpha-Glucosidases, Treatment Outcome, Age of Onset, Phenotype, Adult, Female, Male, Enzyme Replacement Therapy

وصف الملف: application/pdf

Relation: Molecular genetics and metabolism; S1096-7192(16)30296-7; https://hdl.handle.net/10161/27305

الاتاحة: https://hdl.handle.net/10161/27305

المؤلفون: Desai, Ankit K., Walters, Crista K., Cope, Heidi L., Kazi, Zoheb B., DeArmey, Stephanie M., Kishnani, Priya S.

المساهمون: Genzyme Corporation, Sanofi Company, National Institutes of Health

المصدر: Molecular Genetics and Metabolism ; volume 123, issue 2, page 92-96 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2017.12.435
https://api.elsevier.com/content/article/PII:S1096719217312325?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719217312325?httpAccept=text/plain

المؤلفون: Herbert, Mrudu, Kazi, Zoheb B, Richards, Susan, Rosenberg, Amy S, Kishnani, Priya S

المصدر: Genetics in Medicine ; volume 19, issue 11, page 1281-1282 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2017.48
http://www.nature.com/articles/gim201748.pdf
http://www.nature.com/articles/gim201748
https://api.elsevier.com/content/article/PII:S1098360021045883?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021045883?httpAccept=text/plain
http://www.nature.com/doifinder/10.1038/gim.2017.48

المؤلفون: Bali, Deeksha S., Goldstein, Jennifer L., Rehder, Catherine, Kazi, Zoheb B., Berrier, Kathryn L., Dai, Jian, Kishnani, Priya S.

المصدر: Molecular Genetics and Metabolism Reports ; volume 5, page 76-79 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2015.10.012
https://api.elsevier.com/content/article/PII:S2214426915300471?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426915300471?httpAccept=text/plain

المؤلفون: Berrier, Kathryn L., Kazi, Zoheb B., Prater, Sean N., Bali, Deeksha S., Goldstein, Jennifer, Stefanescu, Mihaela C., Rehder, Catherine W., Botha, Eleanor G., Ellaway, Carolyn, Bhattacharya, Kaustuv, Tylki-Szymanska, Anna, Karabul, Nesrin, Rosenburg, Amy S., Kishnani, Priya S.

المصدر: Genetics in Medicine ; volume 17, issue 11, page 912-918 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2015.6
http://www.nature.com/articles/gim20156.pdf
http://www.nature.com/articles/gim20156
https://api.elsevier.com/content/article/PII:S109836002103135X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002103135X?httpAccept=text/plain

المؤلفون: Gupta, Neerja, Kazi, Zoheb B., Nampoothiri, Sheela, Jagdeesh, Sujatha, Kabra, Madhulika, Puri, Ratna Dua, Muranjan, Mamta, Kalaivani, Mani, Rehder, Catherine, Bali, Deeksha, Verma, Ishwar C., Kishnani, Priya S.

المساهمون: Sanofi Genzyme

المصدر: The Journal of Pediatrics ; volume 216, page 44-50.e5 ; ISSN 0022-3476

الاتاحة: http://dx.doi.org/10.1016/j.jpeds.2019.08.058
https://api.elsevier.com/content/article/PII:S0022347619311217?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022347619311217?httpAccept=text/plain

المؤلفون: Desai, Ankit K., Kazi, Zoheb B., Bali, Deeksha S., Rehder, Catherine W., Richards, Susan, Rosenberg, Amy S., Kishnani, Priya S.

المصدر: Molecular Genetics and Metabolism ; volume 126, issue 2, page S48 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2018.12.106
https://api.elsevier.com/content/article/PII:S1096719218308886?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719218308886?httpAccept=text/plain

المؤلفون: Desai, Ankit K., Kazi, Zoheb B., Erwin, Angelika, Troxler, Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Nuoffer, Jean-Marc, Weisfield-Adams, James, Rizzo, William, Maxit, Clarisa, Rohrbach, Marianne, Ballhausen, Diana, Scherer, Katalin, Abdul-Rahman, Omar, Tanpaiboon, Pranoot, Nampoothiri, Sheela, Gupta, Neerja, Feigenbaum, Annette, Niyazov, Dmitriy, Langston, Sherry, McVie-Wylie, Alison, Sung, Crystal, Joseph, Alexandra M., Richards, Susan, Kishnani, Priya S.

المصدر: Molecular Genetics and Metabolism ; volume 123, issue 2, page S38 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2017.12.080
https://api.elsevier.com/content/article/PII:S1096719217308557?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719217308557?httpAccept=text/plain

المؤلفون: Rairikar, Mugdha, Kazi, Zoheb B., Desai, Ankit, Walters, Crista, Rosenberg, Amy, Kishnani, Priya S.

المساهمون: Lysosomal Disease Network

المصدر: Molecular Genetics and Metabolism ; volume 122, issue 1-2, page 76-79 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2017.05.006
https://api.elsevier.com/content/article/PII:S1096719217301634?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719217301634?httpAccept=text/plain

المؤلفون: Chan, Justin, Desai, Ankit K., Kazi, Zoheb B., Corey, Kaitlyn, Austin, Stephanie, Hobson-Webb, Lisa D., Case, Laura E., Jones, Harrison N., Kishnani, Priya S.

المساهمون: National Skeletal Muscle Research Center, Genzyme Corporation

المصدر: Molecular Genetics and Metabolism ; volume 120, issue 3, page 163-172 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2016.12.004
https://api.elsevier.com/content/article/PII:S1096719216302967?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S1096719216302967?httpAccept=text/xml

المؤلفون: Rairikar, Mugdha V., Case, Laura E., Bailey, Lauren A., Kazi, Zoheb B., Desai, Ankit K., Berrier, Kathryn L., Coats, Julie, Gandy, Rachel, Quinones, Rebecca, Kishnani, Priya S.

المساهمون: Genzyme Corporation, Lysosomal Disease Network, NIH Rare Diseases Clinical Research Network, NCATS, National Institute of Neurological Disorders and Stroke, National Institute of Diabetes and Digestive and Kidney Diseases

المصدر: Molecular Genetics and Metabolism ; volume 122, issue 3, page 99-107 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2017.09.008
https://api.elsevier.com/content/article/PII:S1096719217305012?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719217305012?httpAccept=text/plain

المؤلفون: Ha, Christine I., Desai, Ankit K., Waterfield, Justin, Kazi, Zoheb B., Austin, Stephanie L., Bossen, Edward H., Kishnani, Priya S., Buckley, Anne F.

المصدر: Molecular Genetics and Metabolism ; volume 120, issue 1-2, page S60-S61 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2016.11.136
https://api.elsevier.com/content/article/PII:S1096719216305558?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S1096719216305558?httpAccept=text/xml

المؤلفون: Kazi, Zoheb B., Desai, Ankit K., Mori, Mari, Dua, Karanjeet, Thompson, J. Will, Lucas, Joseph, Moseley, Arthur, Kishnani, Priya S.

المصدر: Molecular Genetics and Metabolism ; volume 117, issue 2, page S66 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2015.12.316
https://api.elsevier.com/content/article/PII:S1096719215005016?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719215005016?httpAccept=text/plain

المؤلفون: Kazi, Zoheb B., Desai, Ankit K., Erwin, Angelika, Makris, Chris, Troxler, Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Nuoffer, Jean-Marc, Weisfeld-Adams, James, Rizzo, William, Maxit, Clarisa, Rohrbach, Marianne, Ballhausen, Diana, Scherer, Katalyn, Abdul-Rahman, Omar, Joseph, Alexandra M., McVie-Wylie, Alison, Richards, Susan, Kishnani, Priya S.

المصدر: Molecular Genetics and Metabolism ; volume 117, issue 2, page S65-S66 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2015.12.315
https://api.elsevier.com/content/article/PII:S1096719215005004?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719215005004?httpAccept=text/plain

المؤلفون: Mori, Mari, Kazi, Zoheb B., Zhu, Xiaolin, Barrier, Katie, Austin, Stephanie, Cirulli, Elizabeth T., Kishnani, Priya S.

المصدر: Molecular Genetics and Metabolism ; volume 117, issue 2, page S83 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2015.12.368
https://api.elsevier.com/content/article/PII:S1096719215005533?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719215005533?httpAccept=text/plain