Results 91 to 100 of about 8,071 (187)

Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long‐term management

Clinical Endocrinology, Volume 101, Issue 5, Page 562-568, November 2024.
Adrian H. Heald, John Bassett, Nuria Puente‐Ruiz, Peter Clayton, Karolina M. Stepien   +4 more
wiley   +1 more source

Novel human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in a glyco-engineered Escherichia coli strain

Heliyon
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in the accumulation of keratan sulfate (KS) and chondroitin-6 ...
Luisa N. Pimentel-Vera, Alexander Rodríguez-López, Angela J. Espejo-Mojica, Aura María Ramírez, Carolina Cardona, Luis H. Reyes, Shunji Tomatsu, Thapakorn Jaroentomeechai, Matthew P. DeLisa, Oscar F. Sánchez, Carlos J. Alméciga-Díaz   +10 more
doaj   +1 more source

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

Molecular Genetics and Metabolism Reports, 2018
There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions.
Guillem Pintos-Morell, Javier Blasco-Alonso, María L. Couce, Luís G. Gutiérrez-Solana, Encarna Guillén-Navarro, Mar O'Callaghan, Mireia del Toro   +6 more
doaj   +1 more source

Functional independence of Taiwanese patients with mucopolysaccharidoses

Molecular Genetics & Genomic Medicine, 2019
Background Information on functional strengths and weaknesses of mucopolysaccharidosis (MPS) patients is important for early intervention programs and enzyme replacement therapy (ERT).
Chung‐Lin Lee, Hsiang‐Yu Lin, Chih‐Kuang Chuang, Huei‐Ching Chiu, Ru‐Yi Tu, You‐Hsin Huang, Wuh‐Liang Hwu, Fuu‐Jen Tsai, Pao‐Chin Chiu, Dau‐Ming Niu, Yann‐Jang Chen, Mei‐Chyn Chao, Tung‐Ming Chang, Ju‐Li Lin, Chia‐Ying Chang, Yu‐Chia Kao, Shuan‐Pei Lin   +16 more
doaj   +1 more source

Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study. [PDF]

Anesth Analg, 2023
Theroux MC, DiCindio S, Averill LW, Pizarro C, Oommen A, Bober MB, Ditro C, Campbell J, Duker AL, Jones T, Passi V, Barth P, Schmidt RJ, Little M, Mackenzie S, Tomatsu S, Mackenzie WG.   +16 more
europepmc   +1 more source

Matrix Product State description of the Halperin States

, 2018
Many fractional quantum Hall states can be expressed as a correlator of a given conformal field theory used to describe their edge physics. As a consequence, these states admit an economical representation as an exact Matrix Product States (MPS) that was
Bernevig, B. Andrei, Crepel, Valentin, Estienne, Benoit, Lecheminant, Philippe, Regnault, Nicolas   +4 more
core   +2 more sources

UEG Week 2025 Poster Presentations

United European Gastroenterology Journal, Volume 13, Issue S8, Page S803-S1476, October 2025.
wiley   +1 more source

Comparison of Liquid Chromatography–Tandem Mass Spectrometry and Sandwich ELISA for Determination of Keratan Sulfate in Plasma and Urine

Biomarker Insights, 2011
Background and Aim Mucopolysaccharidosis IVA (MPS IVA) leads to skeletal dysplasia through excessive storage of chondroitin-6-sulfate and keratan sulfate (KS).
Jonathan P. Hintze, Shunji Tomatsu, Tadashi Fujii, Adriana M. Montaño, Seiji Yamaguchi, Yasuyuki Suzuki, Masaru Fukushi, Takeshi Ishimaru, Tadao Orii   +8 more
doaj   +1 more source

Improved numerical methods for infinite spin chains with long-range interactions

, 2013
We present several improvements of the infinite matrix product state (iMPS) algorithm for finding ground states of one-dimensional quantum systems with long-range interactions. As a main new ingredient we introduce the superposed multi-optimization (SMO)
J. Cardy, T. Giamarchi, V. Nebendahl, W. Arnoldi, W. Dür, Y. Saad   +5 more
core   +1 more source

Cooling toolbox for atoms in optical lattices

, 2006
We propose and analyze several schemes for cooling bosonic and fermionic atoms in an optical lattice potential close to the ground state of the no-tunnelling regime.
Barnett R Petrov D Lukin M Demler E, Cirac J I, Garcia-Ripoll J J, Gerbier F Widera A Fölling S Mandel O Gericke T Bloch I, Gericke T Gerbier F Widera A Fölling S Mandel O Bloch I, J I Cirac, J-J Garcia-Ripoll, K G H Vollbrecht, Katzgraber H G Esposito A Troyer M, Köhl M, M Popp, Micheli A Brennen G K Zoller P, Popp M Vollbrecht K G Garcia-Ripoll J J Cirac J I, Ryu C Du X Yesilada E Dudarev A M Wan S Niu Q Heinzen D J, Sebby-Strabley J Anderlini M Jessen P S Porto J V   +14 more
core   +1 more source