المؤلفون: Julie Hoover-Fong, Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael Bober, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Daniel Hoernschemeyer, Keiichi Ozono, Yasemin Alanay, Paul Arundel, Shoji Kagami, Natsuo Yasui, Klane White, Howard Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Donald Basel, Dania Porco, Kala Jayaram, Elena Fisheleva, Sue Lawrinson, Jonathan Day

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100222- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423002224Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/4f5f1607f51849a8afba6cd0d6181111Test

المؤلفون: Jeanne Pimenta, Shelda Cohen, Swati Mukherjee, Fiona Fettes, Kala Jayaram, Ekkehart Lausch

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100366- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423003667Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/ef0d81935dbd4ae4b558b3f4e822e6b5Test

المؤلفون: Barry J. Byrne, Tarekegn Geberhiwot, Bruce A. Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang, Liron Walsh, on behalf of the POM-001/002 Investigators

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: Reveglucosidase alfa, Late-onset Pompe disease, Enzyme replacement therapy, Pharmacokinetics, Safety, Efficacy, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-017-0693-2Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/0f42cc539c044d06b2948b37cb169a2eTest

المؤلفون: Margareth C, Ozelo, Johnny, Mahlangu, K John, Pasi, Adam, Giermasz, Andrew D, Leavitt, Michael, Laffan, Emily, Symington, Doris V, Quon, Jiaan-Der, Wang, Kathelijne, Peerlinck, Steven W, Pipe, Bella, Madan, Nigel S, Key, Glenn F, Pierce, Brian, O'Mahony, Radoslaw, Kaczmarek, Joshua, Henshaw, Adebayo, Lawal, Kala, Jayaram, Mei, Huang, Xinqun, Yang, Wing Y, Wong, Benjamin, Kim, Annette, Von Drygalski

المصدر: New England Journal of Medicine. 386:1013-1025

مصطلحات موضوعية: Adult, Male, GENEr8-1 Trial Group, Factor VIII, Genetic Vectors, Alanine Transaminase, Hemorrhage, Genetic Therapy, General Medicine, Dependovirus, Hemophilia A, Intention to Treat Analysis, HIV Seronegativity, General & Internal Medicine, Humans, Infusions, Intravenous, 11 Medical and Health Sciences

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b7596a3e58a0a0931c39ea2ce694c13Test
https://doi.org/10.1056/nejmoa2113708Test

المؤلفون: Yulan Qi, Alice Huntsman-Labed, Carlos A. Bacino, Keiichi Ozono, Jonathan Day, Klaus Mohnike, Melita Irving, William R. Wilcox, Anu Cherukuri, Ming Liang Chan, Julie Hoover-Fong, Elena Fisheleva, William A. Horton, Kevin Larimore, Ravi Savarirayan, Lori Seid, Kala Jayaram, Joshua Henshaw, George Jeha

المصدر: Clinical Pharmacokinetics. 61:263-280

مصطلحات موضوعية: medicine.medical_specialty, Adolescent, medicine.drug_class, Injections, Subcutaneous, Urinary system, Diastole, Cmax, Achondroplasia, Double-Blind Method, Pharmacokinetics, Internal medicine, Heart rate, Natriuretic peptide, medicine, Humans, Pharmacology (medical), Child, Vosoritide, Pharmacology, business.industry, Natriuretic Peptide, C-Type, medicine.disease, Endocrinology, Area Under Curve, Child, Preschool, business, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad947a5e332d6c058f6036d194e53431Test
https://doi.org/10.1007/s40262-021-01059-1Test

المؤلفون: Howard M. Saal, Carlos A. Bacino, Klaus Mohnike, Daniel Hoernschemeyer, Paul Harmatz, Yumiko Kotani, Julie Hoover-Fong, Jonathan Day, Frank Rutsch, Keiichi Ozono, Alice Huntsman-Labed, Joel Charrow, Rosendo Ullot Font, Elena Fisheleva, Antonio Leiva-Gea, Felipe Luna-González, Donald Basel, Natsuo Yasui, Lynda E. Polgreen, Kala Jayaram, Hiroshi Mochizuki, Ravi Savarirayan, Ignacio Ginebreda, Louise Tofts, Paul Arundel, Michael B. Bober, William R. Wilcox, Yasemin Alanay, Klane K. White, Melita Irving, Dania M Porco

المساهمون: Acibadem University Dspace

المصدر: GENETICS IN MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 12
Genetics in Medicine

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Clinical Trials and Supportive Activities, Clinical Sciences, Brief Communication, Placebo, Achondroplasia, Growth velocity, Double-Blind Method, Clinical Research, Genetics, medicine, Humans, Child, Genetics (clinical), Vosoritide, Pediatric, Genetics & Heredity, Growth promoting, business.industry, Extension study, Natriuretic Peptide, C-Type, medicine.disease, Endochondral bone growth, Treatment Outcome, 6.1 Pharmaceuticals, Open label, business, General Economics, Econometrics and Finance

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a07ca192ca4d05488140084f1d5f490fTest
https://doi.org/10.1530/ey.19.5.3Test

المؤلفون: Alice Huntsman-Labed, George S Jeha, Jonathan Day, Antonio Leiva-Gea, Elena Fisheleva, Chandler Crews, Ravi Savarirayan, Keiichi Ozono, Kala Jayaram, Klaus Mohnike, Julie Hoover-Fong, Carlos A Bacino, Valerie Cormier-Daire, Yasemin Alanay, Melita Irving, Mary Andrews, Cristina Klafehn

المصدر: Future Rare Diseases. 1

مصطلحات موضوعية: musculoskeletal diseases, Bone growth, medicine.medical_specialty, Endocrinology, business.industry, Internal medicine, medicine, Achondroplasia, business, medicine.disease, Vosoritide

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eff2ae05af8bb89e7a04c8edf70ac91aTest
https://doi.org/10.2217/frd-2021-0009Test

المؤلفون: Paul Arundel, Lynda E. Polgreen, Michael B. Bober, Ignacio Ginebreda, Ravi Savarirayan, Antonio Leiva-Gea, Louise Tofts, Hiroshi Mochizuki, Elena Fisheleva, Julie Hoover-Fong, Shoji Kagami, Kala Jayaram, Lynn Han, Dania M Porco, William R. Wilcox, Yasemin Alanay, Frank Rutsch, Howard M. Saal, Natsuo Yasui, Carlos A. Bacino, Klaus Mohnike, Donald Basel, Joel Charrow, Jonathan Day, Keiichi Ozono, Felipe Luna-González, Melita Irving, Rosendo Ullot Font, Daniel Hoernschemeyer, Paul Harmatz, Klane K. White

المصدر: Journal of the Endocrine Society, vol 5, iss Suppl 1
Journal of the Endocrine Society

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Growth promoting, business.industry, Emerging Endocrine Therapies Across the Lifespan, Endocrinology, Diabetes and Metabolism, Extension study, medicine.disease, Phase (combat), Pediatric Endocrinology, medicine, Achondroplasia, business, AcademicSubjects/MED00250, Vosoritide

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc0638b74dc8976ce1f0b2509b301215Test
https://escholarship.org/uc/item/1549x11sTest

المؤلفون: Anu Cherukuri, Ming Liang Chan, Alice Huntsman Labed, Kala Jayaram, Kim Hanh Le Quan Sang, Carlos A. Bacino, Joel Charrow, Kevin Larimore, George Jeha, Jonathan Day, Natalie N. Owen, Bret L. Bostwick, Ravi Savarirayan, Valérie Cormier-Daire, Julie Hoover-Fong, Melita Irving, Paul Harmatz, Patricia I. Dickson, John A. Phillips

المصدر: Yearbook of Paediatric Endocrinology.

مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Body height, medicine.drug_class, Injections, Subcutaneous, Growth, 030204 cardiovascular system & hematology, Short stature, Achondroplasia, 03 medical and health sciences, 0302 clinical medicine, Osteogenesis, Internal medicine, Natriuretic peptide, medicine, Humans, 030212 general & internal medicine, Growth Charts, Child, Endochondral ossification, Cyclic GMP, Dose-Response Relationship, Drug, business.industry, Genetic disorder, Natriuretic Peptide, C-Type, General Medicine, medicine.disease, Body Height, Endocrinology, C-type natriuretic peptide, Dysplasia, Child, Preschool, Female, Collagen, medicine.symptom, business, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8d116d9b8dba0b95a274a71e8eef7edTest
https://doi.org/10.1530/ey.17.5.1Test

المؤلفون: Klane K. White, Felipe Luna-Gonzáles, Antonio Leiva-Gea, Lynda E. Polgreen, Rosendo Ullot Font, Alice Huntsman-Labed, Donald Basel, Natsuo Yasui, Dania M Porco, Jonathan Day, Elena Fisheleva, Hiroshi Mochizuki, Melita Irving, Paul Harmatz, Keiichi Ozono, Daniel Hoernschmeyer, Yasemin Alanay, Julie Hoover-Fong, Joel Charrow, Kala Jayaram, Howard M. Saal, Frank Rutsch, Carlos A. Bacino, Klaus Mohnike, Ignacio Ginebreda, Paul Arundel, William R. Wilcox, Michael B. Bober, Ravi Savarirayan, Louise Tofts, Shoji Kagami

المصدر: Journal of the Endocrine Society
Journal of the Endocrine Society, vol 4, iss Suppl 1

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, law.invention, Randomized controlled trial, Pediatric Endocrinology, law, medicine, Pediatric Growth and Adrenal Disorders, Achondroplasia, business, AcademicSubjects/MED00250, Vosoritide

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa14886b197168b3e55303f0ea2159beTest
http://europepmc.org/articles/PMC7209563Test