Results 71 to 80 of about 32,710 (240)

Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region

مجلة الكوفة الطبية
Background and objectives: Lysosomal storage diseases are a set of single-gene disorders that is attributed to insufficient certain lysosomal hydrolase activity or non-enzymatic proteins vital for typical lysosomal functions.
Lana Ahmed Mohammed
doaj   +1 more source

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

Frontiers in Genetics, 2023
Background: Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases, which encompass more than 50 different subtypes of pathologies.
Rutaba Gul, Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Mulazim Hussain, Frederik F. Staeger, Anette P. Gjesing, Anders Albrechtsen, Torben Hansen   +11 more
doaj   +1 more source

Is Surgical Treatment for Obstructive Sleep Apnea in Infants and Toddlers Safe? A Retrospective Comparative Analysis

Clinical Otolaryngology, EarlyView.
ABSTRACT Objective To assess if surgery for Obstructive Sleep Apnea Disorder (OSAD) is safe for infants and toddlers. Methods Retrospective cohort study of paediatric patients undergoing OSA surgery; partial or complete tonsillectomy with adenoidectomy, tonsillectomy without adenoidectomy and adenoidectomy.
Daniel Levi, Daniel Yafit, Aviad Sapir, Yotam Heilig, Tomer Kerman, Oriya Damri, Inbal Golan‐Tripto, Daniel Michael Kaplan, Oren Ziv   +8 more
wiley   +1 more source

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? [PDF]

, 2016
Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable lysosomal storage disorders characterized by neurodegeneration and accumulation of lipopigments mainly within the neurons. We studied two littermate Chihuahua dogs presenting with progressive
Alroy, Joseph, Anderson, Glenn W., Bras, Jose, Darwent, Lee, Faller, Kiterie M.E., Guerreiro, Rita J., Gutierrez Quintana, Rodrigo, Kun-Rodrigues, Celia, Mole, Sara E., Penderis, Jacques, Sharpe, Samuel J.   +10 more
core   +2 more sources

Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings

Diagnostics, 2020
Enzyme replacement therapy (ERT) is one of the available therapies for mucopolysaccharidosis (MPS). This study presents a follow-up of two siblings with MPS IVA (Morquio A disease) that received ERT. Both siblings received weekly intravenous infusions of
Sharon Barak, Yair Anikster, Ifat Sarouk, Eve Stern, Etzyona Eisenstein, Tamar Yissar, Nir Sherr-Lurie, Annick Raas-Rothschild, Dafna Guttman   +8 more
doaj   +1 more source

Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review

Radiology Case Reports, 2021
Mucopolysaccharidosis type 2 is a congenital lysosomal disease characterized by iduronate-2-sulfatase deficiency, which leads to excessive accumulation of glycosaminoglycans in tissue.
Tomoaki Sasaki, MD, PhD, Miki Ogata, MD, Aya Kajihama, MD, Kouichi Nakau, MD, Atsutaka Okizaki, MD, PhD   +4 more
doaj   +1 more source

Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial

Molecular Therapy, 2018
Hunter syndrome (mucopolysaccharidosis II [MPS II]), a deficiency of iduronate-2-sulfatase (IDS), causes an accumulation of glycosaminoglycans, giving rise to multiple systemic and CNS symptoms.
T. Okuyama, Y. Eto, N. Sakai, K. Minami, Tatsuyoshi Yamamoto, Hiroyuki Sonoda, Mariko Yamaoka, K. Tachibana, T. Hirato, Yuji Sato   +9 more
semanticscholar   +1 more source

Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis

Journal of Child Neurology, 2020
Mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage diseases with multisystem manifestations, including carpal tunnel syndrome (CTS). This study comprised a systematic review of literature and hospital guidelines addressing the method and ...
P. Patel, G. Antoniou, Damian Clark, D. Ketteridge, N. Williams   +4 more
semanticscholar   +1 more source

Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I [PDF]

, 2017
Umbilical cord blood (UCB) is a promising source of stem cells to use in early haematopoietic stem cell transplantation (HSCT) approaches for several genetic diseases that can be diagnosed at birth.
A Oikawa, A Pievani, A Pievani, A Scaradavou, AE Willing, B Sacchetti, C Davenport, C Schulte, CM Simonaro, DC Mendez, DE Harrison, DE Harrison, DJ Rowan, DK Kim, DL Selle, DT Harris, F Gatto, F Kubaski, F Migishima, FL Wilkinson, HE Broxmeyer, J Palis, JJ Boelens, K Ohmi, K Uchida, K Uchida, KK Ballen, L Lu, LA Clarke, LA Clarke, M Aldenhoven, M Aldenhoven, M Aldenhoven, M Aldenhoven, M Beck, M Schmidt, ME Bernardo, MF Garcia-Rivera, O Levy, S Coşkun, S Garbuzova-Davis, S Jayaraman, S Tomatsu, S Tomatsu, S Tomatsu, SC Kuehn, SH Boyer, SJ Morrison, SL Staba, VK Prasad, VK Prasad, W Chuan, XY Zhong, Y Zheng, ZY Li   +54 more
core   +2 more sources

RNF13 is a previously undescribed interactor of iduronate 2‐sulfatase that modifies its glycosylation and maturation

The FEBS Journal, EarlyView.
Iduronate 2‐sulfatase (IDS; purple) is expressed as a precursor protein that goes through multiple steps of maturation, modification, and trafficking to become an active lysosomal enzyme that degrades glycosaminoglycans. Our study shows that the transmembrane ubiquitin ligases RNF13 (orange) and RNF167 (pink) heterodimerize, affecting IDS intracellular
Valérie C. Cabana, Antoine Y. Bouchard, Audrey M. Sénécal, Laurent Cappadocia, Marc P. Lussier   +4 more
wiley   +1 more source