Results 71 to 80 of about 1,760 (179)

The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast

Journal of Genetic Counseling, Volume 33, Issue 5, Page 1026-1034, October 2024.
Abstract The use of expanded carrier screening (ECS) to assess reproductive risk for autosomal recessive (AR) or X‐linked recessive (XLR) conditions has been increasingly integrated into obstetrical care. The aim of this study was to determine what proportion of pediatric patients seen by a medical genetics practice could have had their diagnosis ...
Kelly Roche, Shama P. Khan, Christina Botti, Philip Giampietro, Sharon Anderson, Elena Ashkinadze   +5 more
wiley   +1 more source

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

American Journal of Medical Genetics Part A, Volume 194, Issue 9, September 2024.
Abstract Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019–April 2022).
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K. White, Heather M. McLaughlin, Guillermo Seratti   +13 more
wiley   +1 more source

Identification of Orthosteric and Allosteric Pharmacological Chaperones for Mucopolysaccharidosis Type IIIB

ChemBioChem, Volume 25, Issue 15, August 1, 2024.
We modeled substrate interactions in NAGLU′s active site and predicted allosteric sites. Virtual screening against a human‐tested molecule database identified potential pharmacological chaperones (PCs). In vitro evaluations confirmed their binding to NAGLU and ability to restore enzymatic activity in MPS IIIB fibroblasts with mutant enzymes.
Juan Camilo Losada, Heidy Triana, Egdda Vanegas, Angela Caro, Alexander Rodríguez‐López, Angela Johana Espejo‐Mojica, Carlos Javier Alméciga‐Diaz   +6 more
wiley   +1 more source

Pain management challenges in a patient with mucopolysaccharidosis IVA

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message It is important to consider all potential pain management modalities including alternative treatment on managing complex pain presentations. Acupuncture is a treatment modality that may result in reduction of pain in patients with significant medical comorbidities due to MPS IVA.
Marcus Gurgius, Sarah Donoghue, Robyn A. Wallace   +2 more
wiley   +1 more source

Delayed diagnosis of mild mucopolysaccharidosis type IVA

BMC Medical Genomics
Background Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic variants in the N-acetylgalactosamine-6-sulfatase (GALNS) gene and is characterized by progressive and multi-system involvements, dominantly with skeletal ...
Mengni Yi, Pinquan Shen, Huiwen Zhang
doaj   +1 more source

Perthes-Like Disease Masquerading Non-Classical MPS

Journal of Inborn Errors of Metabolism and Screening, 2020
Mucopolysaccharidoses (MPS) are inborn errors of metabolism caused by deficient lysosomal enzymes, leading to organomegaly, hip osteonecrosis, coarse facial features, bone deformities, joint stiffness, cardiac and pulmonary symptoms (MPS VI) or ...
Carolina F.M. Souza, Ana Cecília Siqueira, Natália S. Antunes, Dafne D.G. Horovitz, Juan Politei, Charles M. Lourenço, Maria Juliana Rodovalho Doriqui, Débora Lima Souza, Marcial Francis Galera, Leonardo Cury Abrahão, Marcos Almeida Matos, Pedro Henrique Barros Mendes, Tatiana S.P.C Magalhães   +12 more
doaj   +1 more source

Family reflections: MPS IVA [PDF]

Pediatric Research, 2018
Mary Cavanagh, Scott Cavanagh, Ben Cavanagh   +2 more
openaire   +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

Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis

, 2022
Mucopolysaccharidosis type IVA (MPS IVA or Morquio A), a lysosomal storage disease with an autosomal recessive inherited pattern, is induced by GALNS gene mutations causing deficiency in N-acetylgalactosamine-6-sulfatase activity (GALNS; EC 3.1.6.4 ...
Chiu, Huei-Ching, Lee, Chung-Lin, Syu, Yu-Min, Chih-Kuang Chuang, Ya-Hui Chang, Lo, Yun-Ting, Chuang, Chih-Kuang, Chung-Lin Lee, Tu, Yuan-Rong, Lin, Hsiang-Yu, Huei-Ching Chiu, Yuan-Rong Tu, Shuan-Pei Lin, Chang, Ya-Hui, Lin, Shuan-Pei, Yu-Min Syu, Yun-Ting Lo, Hsiang-Yu Lin   +17 more
core   +1 more source

Abstracts

Molecular Oncology, Volume 19, Issue S1, Page 1-940, June 2025.
Abstracts submitted to the ‘EACR 2025 Congress: Innovative Cancer Science’, from 16–19 June 2025 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source