المؤلفون: Dedee F. Murrell, Amy S. Paller, Christine Bodemer, John Browning, Milos Nikolic, Jay A. Barth, Hjalmar Lagast, Eva Krusinska, Allen Reha, on behalf of the ESSENCE Study Group

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: Epidermolysis bullosa, Wound closure, Natural history, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01435-3; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/592da268b4eb4ad3aba28b1fc5ca0fbe

المؤلفون: Amy S. Paller, John Browning, Milos Nikolic, Christine Bodemer, Dedee F. Murrell, Willistine Lenon, Eva Krusinska, Allen Reha, Hjalmar Lagast, Jay A. Barth, on behalf of the ESSENCE Study Group

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Epidermolysis bullosa, Efficacy, Safety, SD-101, Wound closure, Allantoin, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01419-3; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/d6665b0ec6604703b6d65a0c5a40ae7f

المؤلفون: Raphael Schiffmann, Daniel G. Bichet, Ana Jovanovic, Derralynn A. Hughes, Roberto Giugliani, Ulla Feldt-Rasmussen, Suma P. Shankar, Laura Barisoni, Robert B. Colvin, J. Charles Jennette, Fred Holdbrook, Andrew Mulberg, Jeffrey P. Castelli, Nina Skuban, Jay A. Barth, Kathleen Nicholls

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: Amenable mutation, Diarrhea, Fabry disease, Gastrointestinal, Globotriaosylceramide, GSRS, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0813-7; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/5e779a69a2964f6c8462aa2e8b74ad76

المؤلفون: Natalja Haninger-Vacariu, Sarah El-Hadi, Udo Pauler, Marina Foretnik, Renate Kain, Zoltán Prohászka, Alice Schmidt, Nina Skuban, Jay A. Barth, Gere Sunder-Plassmann

المصدر: Case Reports in Obstetrics and Gynecology, Vol 2019 (2019)

مصطلحات موضوعية: Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6684; https://doaj.org/toc/2090-6692

URL الوصول: https://doaj.org/article/471174f65a62470893b8055a81f35e6f

المؤلفون: Carlos Munoz-Zuluaga, Monica Gertz, Melissa Yost-Bido, Alessandria Greco, Nicholas Gorman, Alvin Chen, Vikrum Kooner, Jonathan B Rosenberg, Bishnu P De, Stephen M. Kaminsky, Alain Bborczuk, Rodolfo Ricart Arbona, Heather R Martin, Sebastien Monette, Richie Khanna, Jay A Barth, Ronald G Crystal, Dolan Sondhi

المصدر: Human Gene Therapy.

مصطلحات موضوعية: Genetics, Molecular Medicine, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9ffa6e8de23673ee4afe80b78df1357a
https://doi.org/10.1089/hum.2023.020

المؤلفون: Andrew E. Mulberg, Alan L. Shields, Vivian Kessler, Nina Skuban, Jay A. Barth, Fiona Taylor, Roger E. Lamoureux

المصدر: Quality of Life Research

مصطلحات موضوعية: Diarrhea, Gastrointestinal signs and symptoms, medicine.medical_specialty, Pediatrics, Article, 03 medical and health sciences, 0302 clinical medicine, Bloating, Content validity, Humans, Medicine, Patient Reported Outcome Measures, 030212 general & internal medicine, Fabry disease, 0303 health sciences, Patient-reported outcomes, business.industry, Public health, Debriefing, 030305 genetics & heredity, Public Health, Environmental and Occupational Health, Models, Theoretical, medicine.disease, Clinical trial, Quality of Life, Patient-reported outcome, medicine.symptom, business, FABPRO-GI

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbbb77d88c3b8ff9df1ed40f9a8e7799
https://doi.org/10.1007/s11136-021-02847-9

المؤلفون: Kathleen Nicholls, Toya Ohashi, Derralynn Hughes, Jay A. Barth, Nina Skuban, Takashi Hamazaki, Gere Sunder-Plassmann, Julie Yu, Suma P. Shankar, Iacopo Olivotto, Khan Nedd, Ulla Feldt-Rasmussen, Damara Ortiz

المصدر: Feldt-Rasmussen, U, Hughes, D, Sunder-Plassmann, G, Shankar, S, Nedd, K, Olivotto, I, Ortiz, D, Ohashi, T, Hamazaki, T, Skuban, N, Yu, J, Barth, J A & Nicholls, K 2020, ' Long-term efficacy and safety of migalastat treatment in Fabry disease : 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study ', Molecular Genetics and Metabolism, vol. 131, no. 1-2, pp. 219-228 . https://doi.org/10.1016/j.ymgme.2020.07.007

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, 1-Deoxynojirimycin, Adolescent, Endocrinology, Diabetes and Metabolism, Urology, Renal function, Chaperone, 030105 genetics & heredity, Kidney, Left ventricular hypertrophy, Biochemistry, Biomarkers, Pharmacological, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Migalastat, Genetics, medicine, Humans, Enzyme Replacement Therapy, Molecular Biology, Aged, Fabry disease, business.industry, Lysosomal disorders, Enzyme replacement therapy, Middle Aged, medicine.disease, Clinical trial, Clinical research, alpha-Galactosidase, Mutation, Fabry Disease, Female, Hypertrophy, Left Ventricular, business, 030217 neurology & neurosurgery, Kidney disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5e67aecd8cf15c5624e2e726e15d7bb
https://doi.org/10.1016/j.ymgme.2020.07.007

المؤلفون: Toya Ohashi, Norio Sakai, Jay A. Barth, Takashi Hamazaki, Nina Skuban, Hjalmar Lagast, Ichiei Narita, Jeffrey P. Castelli

المصدر: Clinical and Experimental Nephrology

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Nephrology, medicine.medical_specialty, 1-Deoxynojirimycin, Time Factors, Physiology, Population, Administration, Oral, Renal function, Subgroup analysis, 03 medical and health sciences, 0302 clinical medicine, Japan, Physiology (medical), Migalastat, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Prospective Studies, education, Fabry disease, education.field_of_study, Alpha-galactosidase, biology, business.industry, Enzyme replacement therapy, Middle Aged, medicine.disease, Pharmacologic chaperone, Treatment Outcome, 030104 developmental biology, Mutation, biology.protein, Original Article, Female, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30f29edb46d4bb5f3ae3518f71b80dd7
https://doi.org/10.1007/s10157-019-01810-w

المؤلفون: Derralynn Hughes, Jay A. Barth, Nina Skuban, Daniel G. Bichet, Roberto Giugliani, Vipul Jain, Jeffrey P. Castelli, Ulla Feldt-Rasmussen, Ana Jovanovic, Christopher Viereck, Raphael Schiffmann, Gere Sunder-Plassmann, Kathleen Nicholls

المصدر: American Journal of Medical Genetics. Part a
Hughes, D A, Nicholls, K, Sunder-Plassmann, G, Jovanovic, A, Feldt-Rasmussen, U, Schiffmann, R, Giugliani, R, Jain, V, Viereck, C, Castelli, J P, Skuban, N, Barth, J A & Bichet, D G 2019, ' Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease : Experience from the Phase 3 ATTRACT study ', American Journal of Medical Genetics. Part A, vol. 179, no. 6, pp. 1069-1073 . https://doi.org/10.1002/ajmg.a.61105
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

مصطلحات موضوعية: Estudo clínico, Terapia de reposição de enzimas, Pharmacology, Drug Substitution, Doença de Fabry, chemistry.chemical_compound, Migalastat, Research Letter, Genetics, Medicine, Genetics (clinical), Substituição de medicamentos, Alpha-galactosidase, biology, business.industry, Enzyme replacement therapy, medicine.disease, Fabry disease, Research Letters, Clinical trial, Pharmacological chaperone, chemistry, biology.protein, 1-Deoxynojirimycin, business, Tratamento farmacológico, medicine.drug

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3992f84a83ac0f6b832262c58c2ebb39
https://doi.org/10.1002/ajmg.a.61105

المؤلفون: Jay A. Barth, Charles Albright, Lenora Lehwald, Alberto di Ronza, Shawn C. Aylward, David L. Rogers, Kathrin Meyer, Jeff Castelli, Hai Jiang, Emily de los Reyes, Vipul Jain, Mitchell Goldman

المصدر: Molecular Genetics and Metabolism. 132:S32-S33

مصطلحات موضوعية: Endocrinology, Language function, business.industry, Endocrinology, Diabetes and Metabolism, Interim, Genetics, Medicine, Gene transfer, Late infantile neuronal ceroid lipofuscinosis, business, Molecular Biology, Biochemistry, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c6a3fa06735587f16de6fe6f9ebf9848
https://doi.org/10.1016/j.ymgme.2020.12.061