Results 121 to 130 of about 5,048,722 (239)

Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II

Journal of Inborn Errors of Metabolism and Screening, 2018
Mucopolysaccharidosis II (MPS II—Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in iduronate-2 sulfatase. Enzyme replacement therapy does not cross the blood–brain barrier (BBB), limiting the results in neurological ...
Anneliese L. Barth MD, PhD, Dafne D. G. Horovitz MD, PhD   +1 more
doaj   +1 more source

Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire

Journal of Patient-Reported Outcomes, 2019
Background Capturing the impact of caring for patients with debilitating rare disease is important for understanding disease burden. We aimed to develop and validate an instrument to measure the impact on caregivers of caring for children with three ...
Magdalena Harrington, Asha Hareendran, Anne Skalicky, Hilary Wilson, Marci Clark, Jaromir Mikl   +5 more
doaj   +1 more source

Clinical presentation of mucopolysaccharidosis type II (Hunter′s syndrome)

Annals of Medical and Health Sciences Research, 2012
We present a rare case of mucopolysaccharidosis (MPS) with a typical presentation of mental retardation and absence of corneal clouding. The purpose of presenting this case report is to highlight the distinctive manifestation of MPS (Hunter's disease) and to provide a concise report of Hunter's disease for medical practitioners with the hope that such ...
Chinawa, JM, Adimora, GN, Obu, HA, Tagbo, B, Ujunwa, F, Onubogu, I   +5 more
openaire   +4 more sources

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs [PDF]

, 2017
Purpose: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina expressed noncoding RNAs (ncRNAs).
Bauwens, Miriam, Cannoodt, Robrecht, Coppieters, Frauke, De Baere, Elfride, De Jaegere, Sarah, Leroy, Bart, Menten, Björn, Sante, Tom, Steyaert, Wouter, Van Cauwenbergh, Caroline, Van Laethem, Thalia, Van Schil, Kristof   +11 more
core   +2 more sources

Splicing therapeutics for patients affected by lysosomal storage disorders [PDF]

, 2017
In this study, we have used a modified U1 snRNA that completely matches the splice donor site of HGSNAT gene exon 2, which corrected the effect of the common 5’ splice site mutation c.234+1G>A in Mucopolysaccharidosis IIIC.
Alves, Sandra, Canals, Isaac, Gonçalves, Vânia, Grinberg, Daniel, Jordan, Peter, Matos, Liliana, Prata, Maria João, Pérez, Belén   +7 more
core  

Olipudase alfa IgE‐mediated anaphylaxis prevented by omalizumab and tailored desensitization in a child with acid sphingomyelinase deficiency

Pediatric Allergy and Immunology, Volume 37, Issue 5, May 2026.
Laura Fiori, Veronica Maria Tagi, Silvia Beretta, Chiara Montanari, Ilenia Pia Greco, Gianvincenzo Zuccotti, Enza D'Auria   +6 more
wiley   +1 more source

Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate

Diagnostics
Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS).
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Agnieszka Ługowska, Jolanta Marucha, Katarzyna Drabko, Anna Tylki-Szymańska   +5 more
doaj   +1 more source

Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases

Orphanet Journal of Rare Diseases, 2019
Background A preliminary exploratory study shows solid agreement between the results of case reports and clinical study meta-analyses in mucopolysaccharidosis Type I (MPS-I) adult patients.
Miguel Sampayo-Cordero, Bernat Miguel-Huguet, Almudena Pardo-Mateos, Andrea Malfettone, José Pérez-García, Antonio Llombart-Cussac, Javier Cortés, Marc Moltó-Abad, Cecilia Muñoz-Delgado, Marta Pérez-Quintana, Jordi Pérez-López   +10 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene

Stem Cell Research, 2019
Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S).
Junjie Hong, Miao Xu, Rong Li, Yu-Shan Cheng, Jennifer Kouznetsova, Jeanette Beers, Chengyu Liu, Jizhong Zou, Wei Zheng   +8 more
doaj   +1 more source

Cervical spondylolisthesis in mucopolysaccharidosis type II

Neurological Sciences, 2022
Rossi, Alessandro, Parenti, Giancarlo
openaire   +3 more sources