Recovery of Vision following Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II, Hunter Syndrome [PDF]
Case Reports in Ophthalmology, 2019 We analyzed the effects of enzyme replacement therapy (ERT) on the visual acuity and visual fields of a patient with mucopolysaccharidosis type II, Hunter syndrome, with degeneration of the retina and abnormalities of the optic nerve.
Ryutaro Yamanishi +2 more
doaj +2 more sources
Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome [PDF]
Frontiers in Immunology, 2020 A 3.5 year old Hispanic female presented with signs and symptoms concerning for MPS II (Hunter Syndrome). The diagnosis of MPS II was confirmed by enzyme and molecular testing.
Daniel C. Julien +6 more
doaj +2 more sources
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl [PDF]
BMC Medical Genetics, 2019 Background Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost exclusively in
A. N. Semyachkina +9 more
doaj +2 more sources
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients [PDF]
BMC Medical Genetics, 2020 Background Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accumulation of sulfated ...
L Chkioua +8 more
doaj +2 more sources
Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome [PDF]
Molecular Genetics and Metabolism Reports, 2020 Nathan Grant
doaj +2 more sources
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
Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation. [PDF]
, 2020 BackgroundMucopolysaccharidosis I (MPS IH) is a lysosomal storage disease treated with hematopoietic cell transplantation (HCT) because it stabilizes cognitive deterioration, but is insufficient to alleviate all somatic manifestations.
A Ghosh +51 more
core +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