Results 51 to 60 of about 12,717 (199)

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Salivary Metabolites in Patients with Mucopolysaccharidosis

Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2023
Objective: To identify the salivary metabolites profile of Mucopolysaccharidosis (MPS) types I, II, IV, and VI patients. Material and Methods:The participants were asked to refrain from eating and drinking for one hour before sampling, performed between ...
Rafaela de Oliveira Torres, Andréa Vaz Braga Pintor, Tatiana Kelly da Silva Fidalgo, Ana Paula Canedo Valente, Liana Bastos Freitas-Fernandes, Ivete Pomarico Ribeiro de Souza   +5 more
doaj  

Assessment and management of over-activity and sleep disorder in mucopolysaccharidoses [PDF]

, 2018
There is a growing awareness, based on both research and clinical studies, that abnormal sleep and circadian functioning are associated with the various forms of mucopolysaccharidoses (MPS), with sleep respiratory problems seemingly common in many forms ...
Hare, Dougal, Mahon, Louise, Rust, Stewart   +2 more
core   +2 more sources

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions

Traffic, Volume 27, Issue 1, March 2026.
Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang, Jingyi Fu, Shan Li, Zehui Li, Qirui Zhao, Yuqi Yin, Mei Yang, Yonghua Wang   +7 more
wiley   +1 more source

Mediastinal Tracheostoma for Treatment of Tracheostenosis after Tracheostomy in a Patient with Mucopolysaccharidosis-Induced Tracheomalacia

Case Reports in Surgery, 2017
Background. Treatment of tracheostenosis after tracheostomy in pediatric patients is often difficult. Mucopolysaccharidosis is a lysosomal storage disease that may induce obstruction of the airways. Case Presentation. A 16-year-old male patient underwent
Yasuhiro Chikaishi, Kenichi Kobayashi, Shuichi Shinohara, Akihiro Taira, Yusuke Nabe, Shinji Shinohara, Taiji Kuwata, Masaru Takenaka, Soichi Oka, Ayako Hirai, Kazue Yoneda, Koji Kuroda, Naoko Imanishi, Yoshinobu Ichiki, Fumihiro Tanaka   +14 more
doaj   +1 more source

Orphan drugs and the NHS: Should we value rarity [PDF]

, 2005
Cost effectiveness plays an important part in current decisions about the funding of health technologies. Drugs for rare disease (orphan drugs) are often expensive to produce and, by definition, will benefit only small numbers of patients.
Claxton, K., McCabe, C., Tsuchiya, A.
core   +2 more sources

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

Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report

Journal of Medical Case Reports, 2010
Introduction We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding.
Sharma Subodh, Mahal Tania, Shah Gauri
doaj   +1 more source

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America [PDF]

, 2014
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available.
Acosta, Angelina, Amartino, Hernán, Cabello, Juan Francisco, Garzón, Luz Norela Correa, Giugliani, Roberto, Guelbert, Norberto, Hawilou, Antonieta Mahfoud, Lemes, Aída, Martins, Ana Maria, Santos, Mara Lucia Schmitz Ferreira, Valdez, C. Araceli Arellano, Villarreal, Martha Luz Solano   +11 more
core   +5 more sources

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source