Results 61 to 70 of about 1,596 (158)

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype

Case Reports in Medicine, 2013
Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate.
Albina Tummolo, Orazio Gabrielli, Alberto Gaeta, Maristella Masciopinto, Lucia Zampini, Luigi Michele Pavone, Paola Di Natale, Francesco Papadia   +7 more
doaj   +1 more source

Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT This case highlights a rare co‐existence of Morquio syndrome with bronchial asthma and myoclonic seizures, expanding the known clinical spectrum. It emphasizes the need for comprehensive, multidisciplinary management to address multisystem involvement and describes the challenges of treatment in resource‐limited settings where advanced ...
Bijay Bastola, Sweekar Dahal, Ramesh Raj Acharya, Manish Sah, Pratisma Wagle   +4 more
wiley   +1 more source

The characterisation of pulmonary function in patients with mucopolysaccharidoses IVA: A longitudinal analysis

Molecular Genetics and Metabolism Reports, 2019
Introduction: Mucopolysaccharidosis (MPS) type IVA is a rare, autosomal recessive lysosomal storage disease causing substrate accumulation in various organs and tissues. MPS IVA is associated with both obstructive and restrictive airway disease, with the
Johnny J. Kenth, Gabrielle Thompson, Catherine Fullwood, Stuart Wilkinson, Simon Jones, I.A. Bruce   +5 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

Adjunct diagnostic value of radiological findings in mucopolysaccharidosis type IVa-related thoracic spinal abnormalities: a pilot study

Orphanet Journal of Rare Diseases, 2022
Background In patients with mucopolysaccharidosis (MPS), systematic assessment and management of cervical instability, cervicomedullary and thoracolumbar junction spinal stenosis and spinal cord compression averts or arrests irreversible neurological ...
Ya-Ting Jan, Pei-Shan Tsai, Wen-Hui Huang, Shih-Chieh Huang, Yu-Peng Liu, She-Meng Cheng, Kun-Shuo Huang   +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

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature

Diagnostics, 2020
Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body
Agnieszka Różdżyńska-Świątkowska, Krzysztof Szklanny, Jolanta Marucha, Anna Tylki-Szymańska   +3 more
doaj   +1 more source

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay. [PDF]

PLoS ONE, 2015
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in accumulation of keratan sulfate and chondroitin-6-
Claudia Cozma, Sabrina Eichler, Gyula Wittmann, Alba Flores Bonet, Guido Johannes Kramp, Anne-Katrin Giese, Arndt Rolfs   +6 more
doaj   +1 more source

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Raphael Schiffmann
wiley   +1 more source