Results 1 to 10 of about 1,478,183 (195)
Hunter Syndrome Diagnosed by Otorhinolaryngologist [PDF]
Case Reports in Otolaryngology, 2018 Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). It has an estimated incidence of approximately 1 in 1,62,000 live male births.
Ayako Hashimoto +2 more
doaj +4 more sources
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II) [PDF]
BMC Medical Genomics, 2021 Background This article presents the results of long-term observations and comparative analysis of genotype–phenotype features in a large group of patients (227 males and one female) with a severe, intermediate and mild form of Hunter syndrome ...
Alla Nikolaevna Semyachkina +3 more
doaj +2 more sources
Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review [PDF]
Molecular Genetics and Metabolism Reports, 2022 Hunter syndrome is a neurodegenerative lysosomal storage disorder with limited treatment options to halt the progressive neurocognitive decline. Whilst Intravenous enzyme replacement therapy (ERT) does not cross the blood brain barrier; Intrathecal ERT ...
Srividya Sreekantam +7 more
doaj +2 more sources
Growth charts for patients with Hunter syndrome
Molecular Genetics and Metabolism Reports, 2014 Children with mucopolysaccharidosis II (MPS II), also known as Hunter syndrome, an X-linked disorder, suffer from a multisystem dysfunction caused by the accumulation of glycosaminoglycans.
Pravin Patel +7 more
doaj +3 more sources
Hunter syndrome revisited [PDF]
Romanian Medical Journal, 2020 Hunter syndrome is the type II of mucopolysaccharidose. With impaired glycosaminoglycan catabolism, heparan and dermatan sulfate accumulate in lysosomes. Multiple organ dysfunction is a consequence of this effect.
Dan Cristian Gheorghe +2 more
doaj +1 more source
Airway Management of Hunter Syndrome: a case series
Bali Journal of Anesthesiology, 2023 Type II mucopolysaccharidoses is an X-linked autosomal recessive disease, causing glycosaminoglycan accumulation, leading to repeated surgeries. Airway substrate deposits present a challenge for anesthesiologists.
Raihanita Zahra +3 more
doaj +1 more source
European Heart Journal – Cardiovascular Imaging, 2016 A 62-year-old man with non-obstructive hypertrophic cardiomyopathy developed rotatory vertigo and pre-syncope on turning his head to the left, since the past 2 months. He had received an implantable cardioverter defibrillator owing to a history of syncope caused by ventricular fibrillation.
Toru, Ariyoshi +4 more
openaire +2 more sources
Plastic and Reconstructive Surgery, Global Open, 2020 Summary. Although carpal tunnel syndrome (CTS) is exceedingly rare in children, its prevalence in those with Hunter syndrome, mucopolysaccharidosis type II, is high.
Takuya Uemura, MD, PhD +7 more
doaj +1 more source
A RARE CASE OF HUNTER SYNDROME – CASE REPORT [PDF]
Romanian Journal of Pediatrics, 2015 Mucopolysaccharidoses (MPSs) are a group of rare genetic disorders within the larger family of lysosomal diseases. MPSs disorders are caused by a defi ciency in the activity of a specifi c lysosomal enzyme required for the degradation of ...
Lorena Elena Melit +4 more
doaj +1 more source
Neuroradiological Characteristics in Patients with Mucopolysaccharidosis Type II: A Systematic Review [PDF]
Journal of Medical Academics, 2023 Introduction: Mucopolysaccharidosis (MPS) is an inherited metabolic disorder that is part of the lysosomal disorders; the main characteristic is the deficiency of lysosomal enzymes responsible for the degradation of glycosaminoglycans except for type II ...
Yancarlos Ramos-Villegas +10 more
doaj +1 more source