Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data

Autor: Elsa Shapiro, Charles Marques Lourenço, Neslihan Onenli Mungan, Nicole Muschol, Cara O’Neill, Suresh Vijayaraghavan

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)

Abstract Background Sanfilippo syndrome type B (Sanfilippo B) belongs to a group of rare lysosomal storage diseases characterized by progressive cognitive decline from an early age, acute hyperactivity, and concomitant somatic symptoms. Caregivers fa

Externí odkaz: https://doaj.org/article/0bd369f66b904f0d9b114842d2265c5f

Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data

Autor: Cara O’Neill, Neslihan Önenli Mungan, Elsa Shapiro, Suresh Vijayaraghavan, Charles Marques Lourenço, Nicole Muschol

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Orphanet Journal of Rare Diseases

PubMedID: 31287005 Background: Sanfilippo syndrome type B (Sanfilippo B) belongs to a group of rare lysosomal storage diseases characterized by progressive cognitive decline from an early age, acute hyperactivity, and concomitant somatic symptoms. Ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0b8aa1eecfa66e857ba39ea74eedf15
http://link.springer.com/article/10.1186/s13023-019-1150-1

Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients

Autor: Ashok Vellodi, Simon Jones, David A.H. Whiteman, Roberto Giugliani, Nancy J. Mendelsohn, Suresh Vijayaraghavan, Paul Harmatz, Arian Pano, Christian J. Hendriksz, Yongchang Qiu

Publikováno v: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 2-7 (2017)
Molecular Genetics and Metabolism Reports

ObjectivesThis 109-week, nonrandomized, observational study of mucopolysaccharidosis II (MPS II) patients already enrolled in the Hunter Outcome Survey (HOS) (NCT00882921), assessed the long-term immunogenicity of idursulfase, and examined the effect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45746b29d58d144244ca50b4722d58e8

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

Autor: Joseph, Muenzer, James E, Wraith, Michael, Beck, Roberto, Giugliani, Paul, Harmatz, Christine M, Eng, Ashok, Vellodi, Rick, Martin, Uma, Ramaswami, Muge, Gucsavas-Calikoglu, Suresh, Vijayaraghavan, Susanne, Wendt, Suzanne, Wendt, Ana Cristina, Puga, Antonio, Puga, Brian, Ulbrich, Marwan, Shinawi, Maureen, Cleary, Diane, Piper, Anne Marie, Conway, Ann Marie, Conway, Alan, Kimura

Publikováno v: Genetics in Medicine. 8:465-473

Purpose: To evaluate the safety and efficacy of recombinant human iduronate-2-sulfatase (idursulfase) in the treatment of mucopolysaccharidosis II. Methods: Ninety-six mucopolysaccharidosis II patients between 5 and 31 years of age were enrolled in a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc9ed62ed0dbcc159b373e89c37ba401
https://doi.org/10.1097/01.gim.0000232477.37660.fb

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

Autor: Saikat Santra, Emma L. Blakely, Enrico Baruffini, Daniele Ghezzi, Robert W. Taylor, Cristina Dallabona, Holger Prokisch, Claudia Donnini, Suresh Vijayaraghavan, Helen Roper, Tobias B. Haack, Tim M. Strom, Ileana Ferrero, Alberto Burlina, Laura Melchionda, Massimo Zeviani, Eleonora Lamantea, Anett Walther, John W. Yarham, Robert Kopajtich, Federica Invernizzi

Publikováno v: Human Mutation
Hum. Mutat. 34, 1501-1509 (2013)

We report three families presenting with hypertrophic cardiomyopathy, lactic acidosis, and multiple defects of mitochondrial respiratory chain activities. By direct sequencing of the candidate gene MTO1, encoding the mitochondrial-tRNA modifier 1, or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::babe36fcdb9d600e4b8c8366c40aa922
https://pubmed.ncbi.nlm.nih.gov/23929671