Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Gabriela Niizawa"'
Autor:
Matthew Wicklund, Jia Feng, Julaine Florence, Amy Harper, Nancy L. Kuntz, Anne M. Connolly, Saila Upadhyayula, Elena Bravver, Andrea Smith DʼAlessandro, Mathula Thangarajh, Tulio E. Bertorini, Craig M. McDonald, Ksenija Gorni, Jean K. Mah, Michela Guglieri, Edward C. Smith, Avital Cnaan, Paula R. Clemens, Lauren P. Morgenroth, Barry J. Byrne, Gabriela Niizawa, Erik K Henricson, Heather Gordish-Dressman, Susan T. Iannaccone, Christopher F. Spurney, Georgios Manousakis
Publikováno v:
Muscle Nerve
INTRODUCTION: We performed an observational, natural history study of males with in-frame dystrophin gene deletions causing Becker muscular dystrophy (BMD). METHODS: A prospective natural history study collected longitudinal medical, strength and tim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46c3761121f66b219824e10410ac7536
https://europepmc.org/articles/PMC7520226/
https://europepmc.org/articles/PMC7520226/
Autor:
Edwin W. Naylor, Gabriela Niizawa, Jeffrey Chung, Andrea L. Smith, Hoda Abdel-Hamid, Timothy M. Hughes, Sarah C. Hughes, Paula R. Clemens
Publikováno v:
Muscle & Nerve. 53:570-578
Introduction An opt-out newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was implemented at 2 hospitals in Pittsburgh, Pennsylvania, between 1987 and 1995. Methods For patients and their parent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0664dae5b7f8a3edc962b587606f54e0
https://doi.org/10.1002/mus.24880
https://doi.org/10.1002/mus.24880
Autor:
Jeffrey, Chung, Andrea L, Smith, Sarah C, Hughes, Gabriela, Niizawa, Hoda Z, Abdel-Hamid, Edwin W, Naylor, Timothy, Hughes, Paula R, Clemens
Publikováno v:
Musclenerve. 53(4)
An opt-out newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was implemented at 2 hospitals in Pittsburgh, Pennsylvania, between 1987 and 1995.For patients and their parents in families who rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7a7d4b65c4426a9826442660b578ea69
https://pubmed.ncbi.nlm.nih.gov/26260293
https://pubmed.ncbi.nlm.nih.gov/26260293
Publikováno v:
Clinica Chimica Acta. 347:97-102
Background: Glycogen storage disease II is characterized by a deficiency of the lysosomal enzyme acid α-glucosidase. Currently, glycogen storage disease II is diagnosed by demonstrating the virtual absence or a marked reduction of acid α-glucosidas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b28089a18863c2fefa7f9e66012c5e52
https://doi.org/10.1016/j.cccn.2004.04.009
https://doi.org/10.1016/j.cccn.2004.04.009
Autor:
M. Guglieri, Avital Cnaan, Christopher F. Spurney, Gabriela Niizawa, Paula R. Clemens, Tulio E. Bertorini, J. Florence, Anne M. Connolly, N. Gonzalez, Nancy L. Kuntz, Heather Gordish-Dressman, J. Mah, Edward J. Smith, Lauren P. Morgenroth, A. Smith, Matthew Wicklund, C. McDonald, Mathula Thangarajh, Hoda Abdel-Hamid, Ksenija Gorni
Publikováno v:
Neuromuscular Disorders. 27:S100
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6e90f556b4c130700883edea054a3bb
https://doi.org/10.1016/j.nmd.2017.06.036
https://doi.org/10.1016/j.nmd.2017.06.036
Autor:
Maria Alice Donati, Gabriela Niizawa, Mariana Blanco, Joan Keutzer, Franco Zacchello, Maurizio Scarpa, Elisabetta Pasquini, Rosella Tomanin, Anna Chiara Frigo, Nicoletta Gasparotto
Background Lysosomal storage disorders (LSDs) are pathologies caused by the deficit of lysosomal enzymes; late diagnosis may render therapeutic programs less effective. As early, pre-symptomatic detection could change the natural history of the disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d569c352c17b249bef316a5f46bc7f3e
http://hdl.handle.net/11577/2380839
http://hdl.handle.net/11577/2380839
Autor:
Gabriela Niizawa, Rachel Palmer, Mariana Blanco, Robert J. Pomponio, Hernan Amartino, Nestor A. Chamoles
Publikováno v:
Neuromuscular disorders : NMD. 17(1)
Pompe disease is an autosomal recessive disorder caused by a deficiency in 1,4-a-glucosidase (EC.3.2.1.3), the enzyme required to hydrolyze lysosomal glycogen to glucose. While previous studies have focused on Pompe patients from Europe, the United S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9425935562821bb85351f94f127e084f
https://pubmed.ncbi.nlm.nih.gov/17056254
https://pubmed.ncbi.nlm.nih.gov/17056254
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 359(1-2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a2d51949794ec582069956d60bb8407
https://pubmed.ncbi.nlm.nih.gov/15963968
https://pubmed.ncbi.nlm.nih.gov/15963968