Results 101 to 110 of about 12,127 (209)

P012: Measuring non-reducing terminal glycosaminoglycan fragments increases specificity and differentiates mucopolysaccharidosis type I (MPS I) from mucopolysaccharidosis type II (MPS II)

Genetics in Medicine Open, 2023
Taraka Donti, Sara Smith, Sasha Chernenkoff, Madeline Ellgass, Madhuri Hegde   +4 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

Mucopolysaccharidosis type II with inguinal hernia.

Journal of Nepal Health Research Council, 2015
Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive storage disorder caused by deficiency of lysosomal enzyme iduronate-2-sulfatase, causing excess accumulation of glycosaminoglycans in the lysosomes resulting in cellular damage, organ failure and death.
A, Rayamajhi, P J, Pokharel, R, Chapagain, A K, Rayamajhi   +3 more
openaire   +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

Collagen Type II-Targeting Lentiviral Gene Therapy for Mucopolysaccharidosis IVA

Current Issues in Molecular Biology
Mucopolysaccharidosis (MPS IVA) is caused by pathogenic variations in the GALNS gene, leading to the accumulation of glycosaminoglycans in tissues and causing progressive skeletal lesions.
Betul Celik, Sampurna Saikia, Shaukat Khan, Krishna Sai Musini, Shunji Tomatsu   +4 more
doaj   +1 more source

Lysosomal storage diseases in Portugal: 10 years of experience in molecular studies at National Health Institute (2006-2016) [PDF]

, 2016
As Doenças Lisososomais de Sobrecarga (DLS) são um grupo de mais de 50 doenças hereditárias do metabolismo, sendo a maioria causada por defeitos em enzimas lisossomais específicas.
Alves, Sandra, Amaral, Olga, Coutinho, Maria Francisca, Duarte, Ana Joana, Matos, Liliana, Santos, Juliana Inês   +5 more
core  

Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II

Clinical and Biomedical Research, 2014
Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells that
Sandra Leistner-Segal, Ana Carolina Brusius-Facchin, Rejane Gus, Maira Burin, Maria Teresa Sanseverino, José Antônio Magalhães, Roberto Giugliani   +6 more
doaj   +2 more sources

Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII [PDF]

, 2013
Since the sequencing of the Canis lupus familiaris genome the dog has become a powerful tool for scientists. Selective breeding has created more than 400 different breeds each representing genetic isolates with breed-specific morphological and behavioral
Hytönen, Marjo
core  

Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan.

Journal of the Formosan Medical Association = Taiwan yi zhi, 1998
The mucopolysaccharidoses are a group of inherited disorders of lysosomal storage of glycosaminoglycans. Among them, mucopolysaccharidosis (MPS) type II (Hunter's syndrome), caused by a deficiency in iduronate sulfatase, is the only one inherited in an X-linked recessive manner. We describe 12 Hunter's syndrome patients and seven carriers, with precise
P H, Su, W L, Hwu, S C, Chiang, P C, Chiu, S J, Lin, S G, Shu, T R, Wang   +6 more
openaire   +1 more source

Nursing care for child carrier mucopolysaccharidosis type II: an experience report

Revista de Enfermagem da UFPI, 2020
DOI: https://doi.org/10.26694/reufpi.v3i1.855 Objetivos: Refletir sobre a assistência de enfermagem ao paciente portador de mucopolissacaridose do tipo II e levantar os principais diagnósticos de enfermagem e intervenções de enfermagem frente ao caso. 
Augusto Everton Dias Castro, Éricka Maria Cardoso Soares, Márcia Teles de Oliveira Gouveia
doaj