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
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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
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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
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Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome [PDF]
Molecular Genetics and Metabolism Reports, 2020 Nathan Grant
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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
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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
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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
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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
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Mental health perspectives of Hunter syndrome: Case reports of two biological siblings
Medical Journal of Dr. D.Y. Patil University, 2016 Hunter syndrome is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of a substance called glycosaminoglycans in nearly all cell types, tissues, and organs.
Kabir Garg, Sujita Kumar Kar
doaj +1 more source
In silico profiling of non-synonymous SNPs in IDS gene for early diagnosis of Hunter syndrome
Egyptian Journal of Medical Human Genetics, 2022 Background Single amino acid substitutions in the Iduronate-2-sulfatase enzyme result in destabilization of the protein and cause a genetic disorder called Hunter syndrome.
Adarshan Sivakumar +10 more
doaj +1 more source