Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Martha, Solano"'
Autor:
Nicole Muschol, Anja Koehn, Katharina von Cossel, Ilyas Okur, Fatih Ezgu, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Igor Nestrasil, Brian Kaufman, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 2 (2023)
Background Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding alfa-N-acetyl-glucosaminidase. Enzyme replacement therap
Externí odkaz:
https://doaj.org/article/3ded75f715844309990af3452c9afcb6
Autor:
Roberto Giugliani, Alejandro Fainboim, Chong Ae Kim, Dafne Dain Gandelman Horovitz, Edna Tiemi Sakata, Ana Paula Damiano, Tatiana Sá Pacheco Carneiro Magalhães, Martha Solano Villareal
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Abstract Mucopolysaccharidoses (MPS) constitute a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of glycosaminoglycans (GAGs). Clinical observations suggest a health-related impairment in
Externí odkaz:
https://doaj.org/article/b757dc0f0d074a4f9ff26605fef66175
Autor:
Lorne Clarke MD, Carolyn Ellaway MBBS, PhD, Helen E. Foster MD, MBBS, Roberto Giugliani MD, PhD, Cyril Goizet MD, PhD, Sarah Goring MSc, Sara Hawley MSc, Elaina Jurecki MS, RD, Zaeem Khan MPH, BSc, Christina Lampe MD, Ken Martin MD, Suzanne McMullen MHA, BSc, John J. Mitchell MD, Fathima Mubarack MSc, MHA, H. Serap Sivri MD, Martha Solano Villarreal MD, PhD, Fiona J. Stewart MB, BS, Anna Tylki-Szymanska MD, PhD, Klane White MD, MSc, Frits Wijburg MD, PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2018)
As therapies are developed for rare disorders, challenges of early diagnosis become particularly relevant. This article focuses on clinical recognition of mucopolysaccharidoses (MPS), a group of rare genetic diseases related to abnormalities in lysos
Externí odkaz:
https://doaj.org/article/77e2c55a1f004dacb060921ca52b1269
Autor:
Martha Solano-Murcia
Publikováno v:
Magis: Revista Internacional de Investigación en Educación, Vol 7, Iss 15, Pp 49-62 (2015)
Este artículo, derivado del proyecto de investigación De las re - laciones próximas a las interacciones virtuales: caso Facultad de Medicina , desarrollado en la Pontificia Universidad Jave - riana de Bogotá, se propuso analizar las implicaciones
Externí odkaz:
https://doaj.org/article/75952bc3d61e415594af857471caab72
Autor:
Nicole, Muschol, Anja, Koehn, Katharina, von Cossel, Ilyas, Okur, Fatih, Ezgu, Paul, Harmatz, Maria Jose, de Castro Lopez, Maria Luz, Couce, Shuan-Pei, Lin, Spyros, Batzios, Maureen, Cleary, Martha, Solano, Igor, Nestrasil, Brian D, Kaufman, Adam J, Shaywitz, Stephen M, Maricich, Bernice, Kuca, Joseph, Kovalchin, Eric H, Zanelli
Publikováno v:
The Journal of clinical investigation.
Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding for alfa-N-acetyl-glucosaminidase. Enzyme replacement therapy for n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ba973441d24cec11806948a9a8f39f70
https://pubmed.ncbi.nlm.nih.gov/36413418
https://pubmed.ncbi.nlm.nih.gov/36413418
Publikováno v:
Revista Universitas Medica, Vol 54, Iss 2, Pp 223-246 (2013)
Introducción: esta investigación cualitativa indagó sobre las derivaciones pedagógicas, éticas y relacionales del tránsito de interacciones próximas a intervenciones mediadas por tecnologías de la comunicación en una facultad de medicina que
Externí odkaz:
https://doaj.org/article/33c2b3e7d0624f1bae5fb330199dc8d2
Autor:
Ilyas Okur, Fatih Ezgu, Roberto Giugliani, Nicole Muschol, Anja Koehn, Hernan Amartino, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Heidi Peters, Joy Lee, Igor Nestrasil, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli
Publikováno v:
The Journal of pediatrics. 249
To characterize the longitudinal natural history of disease progression in pediatric subjects affected with mucopolysaccharidosis (MPS) IIIB.Sixty-five children with a confirmed diagnosis of MPS IIIB were enrolled into 1 of 2 natural history studies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06ad41235c50033b04013663829af070
https://pubmed.ncbi.nlm.nih.gov/35709957
https://pubmed.ncbi.nlm.nih.gov/35709957
Autor:
María L. Couce, Spyros Batzios, Joseph Kovalchin, Joy Lee, İlyas Okur, Heidi Peters, Paul Harmatz, Hernan Amartino, Shaun-Pei Lin, Fatih Süheyl Ezgü, Katharina von Cossel, Eric Zanelli, Roberto Giugliani, Stephen M. Maricich, Maureen Cleary, Maria Jose de Castro Lopez, Martha Solano, Nicole Muschol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb612a9b1266af785f0636ee94ab5d24
https://avesis.gazi.edu.tr/publication/details/4b19acca-0fdf-4f93-aafe-7b580220604e/oai
https://avesis.gazi.edu.tr/publication/details/4b19acca-0fdf-4f93-aafe-7b580220604e/oai
Autor:
Hernan Amartino, Fatih Süheyl Ezgü, María L. Couce, Spyros Batzios, Joy Lee, Eric Zanelli, Heidi Peters, Stephen M. Maricich, Maureen Cleary, Joseph Kovalchin, Nicole Muschol, İlyas Okur, Maria Jose de Castro Lopez, Roberto Giugliani, Martha Solano, Paul Harmatz, Shuan-Pei Lin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7c09d61bc3ca1d42522c0ac921c0777
https://avesis.gazi.edu.tr/publication/details/c40eb589-aa08-4270-abd3-2bf234454528/oai
https://avesis.gazi.edu.tr/publication/details/c40eb589-aa08-4270-abd3-2bf234454528/oai
Autor:
Tim Wood, Tessa Wirt, Cara O’Neill, Holly L. Peay, Valerie Tharp Byers, Roberto Giugliani, Nicole Muschol, Charles Marques Lourenço, Jennifer Siedman, Kimberly McDonald, Imogen Newsom-Davis, Lonnie Zwaigenbaum, Martha Solano, Lynn Golightly, Maria L. Escolar, Jessica Bradshaw
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Journal of Inborn Errors of Metabolism and Screening v.8 2020
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 8, Article number: e20200002, Published: 15 JUN 2020
Journal of Inborn Errors of Metabolism and Screening v.8 2020
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 8, Article number: e20200002, Published: 15 JUN 2020
Mucopolysaccharidosis III (MPS III) is a rare inherited metabolic disease primarily affecting the central nervous system, leading to developmental and/or speech regression. Early diagnosis of the disease is important to introduce appropriate manageme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e837922f7301e98b4f876318974aeb7c
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100401&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100401&tlng=en