Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Monica Kumar"'
Autor:
Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth L. Thurberg, Abhimanyu Yarramaneni, Nicole M. Armstrong, Yong Kim, Monica Kumar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). The ASCEND randomized placebo-controlled trial in adu
Externí odkaz:
https://doaj.org/article/7737861ecbf54c38965ac8ebac64bc3c
Autor:
Monica Kumar, Mario Aguiar, Andreas Jessel, Beth L. Thurberg, Lisa Underhill, Holly Wong, Kelly George, Vanessa Davidson, Edward H. Schuchman
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101888- (2024)
Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder caused by pathogenic variants in the SMPD1 gene causing low or absent activity of the enzyme acid sphingomyelinase, resulting in subsequent accumulation of its substrate,
Externí odkaz:
https://doaj.org/article/2f5e4afdc6ec40a8871842cad5e52d37
Autor:
Robin H. Lachmann, George A. Diaz, Melissa P. Wasserstein, Nicole M. Armstrong, Abhimanyu Yarramaneni, Yong Kim, Monica Kumar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background Enzyme replacement therapy with olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is indicated for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children and adults. An on
Externí odkaz:
https://doaj.org/article/44948c4c23eb4eafbf4f6ef268c87d62
Autor:
George A. Diaz, Roberto Giugliani, Nathalie Guffon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Olipudase alfa is a recombinant human acid sphingomyelinase (ASM) enzyme replacement therapy (ERT) for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). We report 2-year cumulative safety and ef
Externí odkaz:
https://doaj.org/article/f4e53439dfaf4da68e483c036ee34ded
Autor:
Melissa Wasserstein, Roberto Giugliani, Simon Jones, Robin Lachmann, Maurizio Scarpa, Monica Kumar, Nicole Armstrong, Mario Aguiar
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100377- (2023)
Externí odkaz:
https://doaj.org/article/e2b148c6b8fc43aa8e41cbfa23372153
Autor:
George A. Diaz, Roberto Giugliani, Nathalie Gufon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-2 (2023)
Externí odkaz:
https://doaj.org/article/65f7613973fa4218b3015341ebaca0dd
Autor:
Melissa Wasserstein, Robin Lachmann, Carla Hollak, Laila Arash-Kaps, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Eubekir Senates, Michel Tchan, Jesus Villarrubia, Yixin Chen, Sandy Furey, Beth L. Thurberg, Atef Zaher, Monica Kumar
Publikováno v:
Genetics in medicine, 24(7), 1425-1436. Lippincott Williams and Wilkins
Purpose: This trial aimed to assess the efficacy and safety of olipudase alfa enzyme replacement therapy for non–central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adults. Methods: A phase 2/3, 52 week, internationa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8858e3c2face69ffd5efd4e9c4736a6
https://doi.org/10.1016/j.gim.2022.03.021
https://doi.org/10.1016/j.gim.2022.03.021
Autor:
Monica Kumar
Publikováno v:
InnovAiT: Education and inspiration for general practice. 14:27-31
The last days of life are challenging for both patients and their loved ones. Recognition of the terminal stage of life can allow time for care planning. An early discussion can provide an opportunity for questions. It can be reassuring for patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7552c1ca3ebf6868a4bd92bfe48609c5
https://doi.org/10.1177/1755738020966000
https://doi.org/10.1177/1755738020966000
Autor:
Monica Kumar
Publikováno v:
InnovAiT: Education and inspiration for general practice. 13:273-279
The management of symptoms related to the gastrointestinal tract is an ongoing challenge in the care of patients with advanced malignancy. Clinical symptoms are often detrimental to a patient’s quality of life. The goal of palliative medicine inclu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f24d112f4f17c124075fb066da6a09a
https://doi.org/10.1177/1755738020906182
https://doi.org/10.1177/1755738020906182
Autor:
Maurizio Scarpa, George A. Diaz, Roberto Giugliani, Robin Lachmann, Melissa P. Wasserstein, Kenneth I. Berger, Francesco Bonella, Simon L.F. Walsh, Wim A. Wuyts, Andreas Jessel, Andreea M. Rawlings, Monica Kumar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d215554e28dc120156715d7e2dd2a27
