المؤلفون: Sharma, Rajesh, Kucera, Cathlin R., Nery, Camille R., Lacbawan, Felicitas L., Salazar, Denise, Tanpaiboon, Pranoot

المصدر: Pediatrics International ; volume 66, issue 1 ; ISSN 1328-8067 1442-200X

الاتاحة: http://dx.doi.org/10.1111/ped.15726
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.15726

المؤلفون: Tanpaiboon, Pranoot, Huang, Yue, Louie, Judy Z., Sharma, Rajesh, Cederbaum, Stephen, Salazar, Denise

المصدر: Molecular Genetics and Metabolism Reports ; volume 38, page 101042 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2023.101042
https://api.elsevier.com/content/article/PII:S2214426923000885?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426923000885?httpAccept=text/plain

المؤلفون: Kishnani, Priya S, Gibson, James B, Gambello, Michael J, Hillman, Richard, Stockton, David W, Kronn, David, Leslie, Nancy D, Pena, Loren DM, Tanpaiboon, Pranoot, Day, John W, Wang, Raymond Y, Goldstein, Jennifer L, An Haack, Kristina, Sparks, Susan E, Zhao, Yang, Hahn, Si Houn

المصدر: Genetics in Medicine. 21(11)

مصطلحات موضوعية: Biological Sciences, Genetics, Digestive Diseases, Clinical Research, Liver Disease, Chronic Liver Disease and Cirrhosis, Pediatric, Adolescent, Child, Child, Preschool, Cohort Studies, Enzyme Replacement Therapy, Female, Genotype, Glycogen Storage Disease Type II, Humans, Infant, Male, Phenotype, Prospective Studies, United States, alpha-Glucosidases, alglucosidase alfa, glycogenosis type 2, GAA pathogenic variants, infantile-onset Pompe disease, late-onset Pompe disease, Pompe ADVANCE Study Consortium, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0z94x25h

المؤلفون: Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow‐Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo‐Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti‐Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser‐Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane‐Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Gupta, Neerja, Kabra, Madhulika, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, Krantz, Ian D

المصدر: American Journal of Medical Genetics Part A. 179(2)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Intellectual and Developmental Disabilities (IDD), Pediatric, Neurosciences, Congenital, Abnormalities, Multiple, Adolescent, Adult, Cell Cycle Proteins, Child, Child, Preschool, Chondroitin Sulfate Proteoglycans, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Face, Female, Humans, Image Processing, Computer-Assisted, Infant, Infant, Newborn, Intellectual Disability, Male, Mutation, Phenotype, Racial Groups, Young Adult, CdLS, Cornelia de Lange syndrome, diverse populations, facial analysis technology, NIPBL, underrepresented minorities, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6w35196f

المؤلفون: Vockley, Jerry, Burton, Barbara K., Berry, Gerard, Longo, Nicola, Phillips, John, Sanchez‐Valle, Amarilis, Chapman, Kimberly A., Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Lu, Xiaoxiao, Rahman, Syeda, Ray, Kathryn, Reineking, Bridget, Pisani, Laura, Ramirez, Antonio Nino

المساهمون: Ultragenyx Pharmaceutical

المصدر: Journal of Inherited Metabolic Disease ; volume 46, issue 5, page 943-955 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1002/jimd.12640
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12640

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: Gounden, Verena, Tanpaiboon, Pranoot

المصدر: Frontiers in Endocrinology; 2024, p1-3, 3p

مصطلحات موضوعية: HEALTH facilities, HEPATIC fibrosis, FATTY liver, ENDOCRINE diseases, NON-alcoholic fatty liver disease, THYROTROPIN receptors

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: Lau, Heather A, Viskochil, David, Tanpaiboon, Pranoot, Lopez, Antonio Gonzalez-Meneses, Martins, Esmeralda, Taylor, Julie, Malkus, Betsy, Zhang, Lin, Jurecka, Agnieszka, Marsden, Deborah

مصطلحات موضوعية: Growth, Hepatosplenomegaly, Mucopolysaccharidosis VII, Pediatric patients, Urinary glycosaminoglycan, Vestronidase alfa, Child, Enzyme Replacement Therapy, Glucuronidase, Glycosaminoglycans, Hepatomegaly, Humans, Hydrolases, Splenomegaly

Relation: http://hdl.handle.net/10668/22551; https://doi.org/10.1016/j.ymgme.2022.03.002

الاتاحة: http://hdl.handle.net/10668/22551
https://doi.org/10.1016/j.ymgme.2022.03.002

المؤلفون: Rosenthal, Sun Hee, Gerasimova, Anna, Ruiz-Vega, Rolando, Livingston, Kayla, Kagan, Ron M., Liu, Yan, Anderson, Ben, Owen, Renius, Bernstein, Laurence, Smolgovsky, Alla, Xu, Dong, Chen, Rebecca, Grupe, Andrew, Tanpaiboon, Pranoot, Lacbawan, Felicitas

المساهمون: Quest Diagnostics

المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-022-06091-0
https://www.nature.com/articles/s41598-022-06091-0.pdf
https://www.nature.com/articles/s41598-022-06091-0

المؤلفون: Vockley, Jerry, Burton, Barbara, Berry, Gerard, Longo, Nicola, Phillips, John, Sanchez-Valle, Amarilis, Chapman, Kimberly, Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Lu, Xiaoxiao, Rahman, Syeda, Ray, Kathryn, Ramirez, Antonio Nino

المصدر: Genetics in Medicine ; volume 24, issue 3, page S349 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.01.567
https://api.elsevier.com/content/article/PII:S1098360022005846?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022005846?httpAccept=text/plain

المؤلفون: Peretz, Ryan, Salazar, Denise, Tanpaiboon, Pranoot

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 4, page 108290 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2024.108290
https://api.elsevier.com/content/article/PII:S1096719224001756?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719224001756?httpAccept=text/plain

المؤلفون: Jolly, Lachlan A, Parnell, Euan, Gardner, Alison E, Corbett, Mark A, Pérez-Jurado, Luis A, Shaw, Marie, Lesca, Gaetan, Keegan, Catherine, Schneider, Michael C, Griffin, Emily, Maier, Felicitas, Kiss, Courtney, Guerin, Andrea, Crosby, Kathleen, Rosenbaum, Kenneth, Tanpaiboon, Pranoot, Whalen, Sandra, Keren, Boris, McCarrier, Julie, Basel, Donald, Sadedin, Simon, White, Susan M, Delatycki, Martin B, Kleefstra, Tjitske, Küry, Sébastien, Brusco, Alfredo, Sukarova-Angelovska, Elena, Trajkova, Slavica, Yoon, Sehoun, Wood, Stephen A, Piper, Michael, Penzes, Peter, Gecz, Jozef

المساهمون: Jolly, Lachlan A, Parnell, Euan, Gardner, Alison E, Corbett, Mark A, Pérez-Jurado, Luis A, Shaw, Marie, Lesca, Gaetan, Keegan, Catherine, Schneider, Michael C, Griffin, Emily, Maier, Felicita, Kiss, Courtney, Guerin, Andrea, Crosby, Kathleen, Rosenbaum, Kenneth, Tanpaiboon, Pranoot, Whalen, Sandra, Keren, Bori, McCarrier, Julie, Basel, Donald, Sadedin, Simon, White, Susan M, Delatycki, Martin B, Kleefstra, Tjitske, Küry, Sébastien, Brusco, Alfredo, Sukarova-Angelovska, Elena, Trajkova, Slavica, Yoon, Sehoun, Wood, Stephen A, Piper, Michael, Penzes, Peter, Gecz, Jozef

مصطلحات موضوعية: X-chromosome, USP9X, neurodevelopmental disorder, intellectual disability, syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/33298948; info:eu-repo/semantics/altIdentifier/wos/WOS:000597263100001; volume:5; issue:53; firstpage:1; lastpage:11; numberofpages:11; journal:NPJ GENOMIC MEDICINE; http://hdl.handle.net/2318/1764320; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097438993; https://www.nature.com/articles/s41525-020-00162-9

الاتاحة: http://hdl.handle.net/2318/1764320
https://doi.org/10.1038/s41525-020-00162-9
https://www.nature.com/articles/s41525-020-00162-9

المؤلفون: Tim-Aroon, Thipwimol, Wichajarn, Khunton, Katanyuwong, Kamornwan, Tanpaiboon, Pranoot, Vatanavicharn, Nithiwat, Sakpichaisakul, Kullasate, Kongkrapan, Arthaporn, Eu-ahsunthornwattana, Jakris, Thongpradit, Supranee, Moolsuwan, Kanya, Satproedprai, Nusara, Mahasirimongkol, Surakameth, Lerksuthirat, Tassanee, Suktitipat, Bhoom, Jinawath, Natini, Wattanasirichaigoon, Duangrurdee

المساهمون: Mahidol University

المصدر: BMC Pediatrics ; volume 21, issue 1 ; ISSN 1471-2431

الاتاحة: http://dx.doi.org/10.1186/s12887-020-02481-3
http://link.springer.com/content/pdf/10.1186/s12887-020-02481-3.pdf
http://link.springer.com/article/10.1186/s12887-020-02481-3/fulltext.html

المؤلفون: Li, Cindy, Desai, Ankit K., Gupta, Punita, Dempsey, Katherine, Bhambhani, Vikas, Hopkin, Robert J., Ficicioglu, Can, Tanpaiboon, Pranoot, Craigen, William J., Rosenberg, Amy S., Kishnani, Priya S.

المصدر: Genetics in Medicine ; volume 23, issue 5, page 845-855 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-020-01080-y
http://www.nature.com/articles/s41436-020-01080-y.pdf
http://www.nature.com/articles/s41436-020-01080-y
https://api.elsevier.com/content/article/PII:S1098360021014519?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021014519?httpAccept=text/plain

المؤلفون: Huang, Yue, Sharma, Rajesh, Feigenbaum, Annette, Lee, Chung, Sahai, Inderneel, Sanchez Russo, Rossana, Neira, Juanita, Brooks, Susan Sklower, Jackson, Kelly E., Wong, Derek, Cederbaum, Stephen, Lacbawan, Felicitas L., Rowland, Charles M., Tanpaiboon, Pranoot, Salazar, Denise

المصدر: Molecular Genetics and Metabolism Reports ; volume 27, page 100735 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2021.100735
https://api.elsevier.com/content/article/PII:S221442692100029X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S221442692100029X?httpAccept=text/plain

المؤلفون: Byrne, Barry J., Colan, Steven D., Kishnani, Priya S., Foster, Meredith C., Sparks, Susan E., Gibson, James B., An Haack, Kristina, Stockton, David W., Peña, Loren D. M., Hahn, Si Houn, Johnson, Judith, Tanpaiboon, Pranoot X., Leslie, Nancy D., Kronn, David, Hillman, Richard E., Wang, Raymond Y.

المصدر: Cardiology in the Young ; volume 32, issue 3, page 364-373 ; ISSN 1047-9511 1467-1107

الاتاحة: http://dx.doi.org/10.1017/s1047951121002079
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S1047951121002079

المؤلفون: Vockley, Jerry, Burton, Barbara, Berry, Gerard, Longo, Nicola, Phillips, John, Sanchez‐Valle, Amarilis, Chapman, Kimberly, Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Lu, Xiaoxiao, Cataldo, Jason

المساهمون: Ultragenyx Pharmaceutical

المصدر: Journal of Inherited Metabolic Disease ; volume 44, issue 1, page 253-263 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1002/jimd.12313
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12313
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12313

المؤلفون: Vockley, Jerry, Burton, Barbara, Berry, Gerard T., Longo, Nicola, Phillips, John, Sanchez‐Valle, Amarilis, Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Bowden, Alexandra, Chen, Wencong, Chen, Chao‐Yin, Cataldo, Jason, Marsden, Deborah, Kakkis, Emil

المساهمون: Ultragenyx Pharmaceutical, National Medical Center, University of South Florida, Vanderbilt University Medical Center, University of Utah

المصدر: Journal of Inherited Metabolic Disease ; volume 42, issue 1, page 169-177 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1002/jimd.12038
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fjimd.12038
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12038
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12038

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