Results 71 to 80 of about 12,778 (217)
Stomatological Problems in Child with the II Type Mucopolysaccharidosis
Česká Stomatologie a Praktické Zubní Lékařství, 2013 Introduction: Mucopolysaccharidoses are congenital, hereditary disorders of metabolism, caused by deficiency of vital enzyme. As a result of this the products of metabolism accumulate and settle in tissues and body organs (liver, spleen, heart, brain ...
L. Baborská, V. Merglová
doaj +1 more source
Вопросы современной педиатрии, 2023 Background. Mucopolysaccharidosis type II (MPS II) is a rare hereditary disease from the group of lysosomal storage diseases, with progressive course. There is effective enzyme replacement therapy (ERT) for this disease, it prevents the development of ...
Natalia V. Zhurkova +7 more
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 +11 more
core +5 more sources
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 +3 more
wiley +1 more source
Inclusion Cell Disease - A Rare Cause of Megalocornea with Corneal Edema
Delhi Journal of Ophthalmology, 2018 Inclusion cell disease (I cell disease), also known as mucolipidosis type II, is a rare congenital metabolic storage disorder which seemingly occupies an intermediate position between mucopolysaccharidosis and sphingolipidosis.1 We are hereby presenting ...
Namrata, Rahul Ranjan, Gaurav Arya
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Interference of oropharyngeal dysphagia in food consumption in patients with mucopolysaccharidosis II [PDF]
, 2012 PURPOSE: this study aimed to relate the degree of dysphagia and food consumption of individuals with mucopolysaccharidosis II (MPS II). METHOD: it was included individuals with MPS II of the genetics department at the State University of Alagoas and ...
Barbosa, Pauliana Buarque +5 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 +7 more
wiley +1 more source
Mucopolysaccharidosis Type II in the Practice of the Physician
Aktualʹnaâ Infektologiâ, 2016 The article is devoted to one of the hereditary diseases — mucopolysaccharidosis type II, which is caused by deficiency of lysosomal enzymes, which leads to the catabolism disorder of the basic substance of the connective tissue mucopolysaccharide ...
I.Y. Vatanskaya +2 more
doaj +1 more source
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
CNS penetration of intrathecal-lumbar idursulfase in the monkey, dog and mouse: implications for neurological outcomes of lysosomal storage disorder. [PDF]
PLoS ONE, 2012 A major challenge for the treatment of many central nervous system (CNS) disorders is the lack of convenient and effective methods for delivering biological agents to the brain.
Pericles Calias +11 more
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