Results 51 to 60 of about 1,760 (179)

Cardiac Data for MPS IVA Patients with and without Valvular Thickening.

, 2016
Cardiac Data for MPS IVA Patients with and without Valvular Thickening.
Christina Lampe (426094), Tariq Abu-Tair (3112209), Seyfullah Gökce (3112203), Christiane M. Wiethoff (3112206), Eugen Mengel (670324), Jörg Reinke (3112215), Christoph Kampmann (3112212), Julia B. Hennermann (792374)   +7 more
core   +1 more source

Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses

Diagnostics, 2019
Background: Children with mucopolysaccharidosis (MPS) generally appear unaffected at birth but may develop multiple clinical manifestations including profound growth impairment as they grow older. Each type of MPS has a variable age at onset and variable
Hsiang-Yu Lin, Chung-Lin Lee, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin   +10 more
doaj   +1 more source

Automated radiotherapy planning for volumetric modulated arc therapy in lung cancer

Journal of Applied Clinical Medical Physics, Volume 26, Issue 10, October 2025.
Abstract Background Volumetric‐modulated arc therapy (VMAT) treatment planning balances the need for adequate coverage of the planning target volume (PTV) and the sparing of organs‐at‐risk (OARs). However, this time‐consuming iterative process is influenced by the planner's experience, personal preferences, and the time devoted to create the plan. This
Johann Brand, Juliane Szkitsak, Bernd‐Niklas Axer, Lucas Pieper, Oliver J. Ott, Marlen Haderlein, Florian Putz, Rainer Fietkau, Christoph Bert, Stefan Speer   +9 more
wiley   +1 more source

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA [PDF]

, 2013
Mucopolysaccharidosis type IVA (MPS IVA) was described in 1929 by Luis Morquio from Uruguay and James Brailsford from England, and was later found as an autosomal recessive lysosomal storage disease.
Wood, T, Orii, T, Tomatsu, S, Beck, M, Gravance, CG, Harmatz, P, Jones, S, Hendriksz, CJ, Lachman, R   +8 more
core   +1 more source

Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome

Journal of Inborn Errors of Metabolism and Screening, 2015
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by a deficient N-acetylgalactosamine-6-sulfate sulfatase activity, leading to cellular storage of undegraded keratan sulfate.
Guilherme Baldo PhD, Fabiano Poswar MD, Andressa Federhen MSc, Camila Bittar MD, Rejane Gus PhD, Fernanda Bender MSc, Roberto Giugliani MD, PhD   +6 more
doaj   +1 more source

Processes for Developing Plain Language Versions of Guidelines Recommendations: A Scoping Review

Journal of Evaluation in Clinical Practice, Volume 31, Issue 6, September 2025.
ABSTRACT Rationale Plain language recommendations (PLRs) offer clear and understandable statements based on trustworthy guidelines. Objective We aimed to synthesise methodological evidence for developing PLRs in the health care context. Methods We followed the JBI methodology for scoping review development and the PRISMA‐ScR guidelines for scoping ...
Alena Langaufova, Tereza Friessova, Dana Dolanova, Tereza Vrbova, Petra Burilova, Natalia Beharkova, Andrea Pokorna   +6 more
wiley   +1 more source

Cell Membrane‐Coated Lipid Nanoparticles for Drug Delivery

Aggregate, Volume 6, Issue 7, July 2025.
This review highlights recent progress in cell membrane‐coated lipid nanoparticles (CMC‐LNPs), focusing on their design, preparation methods, functional integration, and biomedical applications. It discusses various types of LNPs and coating strategies, characterization techniques, therapeutic functions, and applications.
Moataz B. Zewail, Guangze Yang, Yilong Fan, Yue Hui, Chun‐Xia Zhao, Yun Liu   +5 more
wiley   +1 more source

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Orphanet Journal of Rare Diseases, 2019
Background Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency.
Huey Yin Leong, Nor Azimah Abdul Azize, Hui Bein Chew, Wee Teik Keng, Meow Keong Thong, Mohd Khairul Nizam Mohd Khalid, Liang Choo Hung, Norzila Mohamed Zainudin, Azura Ramlee, Muzhirah Aisha Md Haniffa, Yusnita Yakob, Lock Hock Ngu   +11 more
doaj   +1 more source

MRI morphometric characterisation of the paediatric cervical spine and spinal cord in children with MPS IVA (Morquio‐Brailsford syndrome) [PDF]

Journal of Inherited Metabolic Disease, 2013
AbstractNearly all children with MPS IVA develop skeletal deformities affecting the spine. At the atlanto‐axial spine, odontoid hypoplasia occurs. GAG deposition around the dens, leads to peri‐odontoid infiltration. Transverse/alar ligament incompetence causes instability.
Solanki, Guirish A., Lo, William B., Hendriksz, Christian J.   +2 more
openaire   +2 more sources

Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

Diagnostics, 2020
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency of one of the enzymes involved in the degradation of glycosaminoglycans. Hearing loss is a common clinical presentation in MPS.
Jeremy Wolfberg, Keerthana Chintalapati, Shunji Tomatsu, Kyoko Nagao   +3 more
doaj   +1 more source