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Published in 2021 at "Annals of Neurology"
DOI: 10.1002/ana.26024
Abstract: A 52-year-old man presented with a 2-year history of sensory symptoms in his left shoulder and upper arm, as well as dizziness and almost fainting by extensively turning his head to the left. His relevant…
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Keywords:
head;
functional imaging;
artery;
hunter syndrome ... See more keywords
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Published in 2022 at "Brain and Development"
DOI: 10.1016/j.braindev.2022.01.003
Abstract: INTRODUCTION Hunter syndrome (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disease caused by deficiency of iduronate-2-sulfatase. Recently, stroke caused by embolization with Hunter syndrome has been reported. Here, we report the case…
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Keywords:
subcortical infarction;
infarction;
infarction young;
young adult ... See more keywords
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Published in 2020 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2020.04.110
Abstract: A6-year-oldgirl presented with acute-onset headache andfluctuating right-sided weakness.HerPedNIHSSwas13. Brain MRI/MRA showed acute pontine arterial ischemic stroke(AIS)and remote right cerebellar and thalamic infarcts.No antecedent trauma or other stroke risk factors were identified. Clinical suspicion of bow…
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Keywords:
rare yet;
hunter syndrome;
syndrome rare;
etiology ... See more keywords
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Published in 2018 at "World neurosurgery"
DOI: 10.1016/j.wneu.2018.07.129
Abstract: BACKGROUND Bow hunter's syndrome (BHS) or rotational vertebral artery occlusion is a rare syndrome of vertebrobasilar insufficiency due to compression or occlusion of the contralateral vertebral artery with cervical axial rotation. Compression at the C2-C3…
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Keywords:
artery;
hunter syndrome;
treatment;
case ... See more keywords
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Published in 2018 at "World neurosurgery"
DOI: 10.1016/j.wneu.2018.07.152
Abstract: BACKGROUND Bow hunter's syndrome is a symptomatic vertebrobasilar insufficiency resulting from a rotational stenosis or occlusion of a dominant vertebral artery (VA). The VA is dynamically compressed by cervical osteoarthritis (discovertebral structure or osteophytes) during…
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Keywords:
decompression;
hunter syndrome;
angiography;
dynamic intraoperative ... See more keywords
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Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100570
Abstract: We appreciate the opportunity to respond to the points Mr. Grant raised in his Letter to the Editor [1]. Neurobehavioral symptoms in neuronopathic Hunter syndrome are complex, difficult to manage, and incompletely understood. Our study…
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Keywords:
neuronopathic hunter;
hunter syndrome;
study;
neurobehavioral symptoms ... See more keywords
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Published in 2017 at "Expert Opinion on Orphan Drugs"
DOI: 10.1080/21678707.2017.1296761
Abstract: ABSTRACT Introduction: Mucopolysaccharidosis Type II (MPS II; Hunter syndrome) is an X- linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). IDS deficiency leads to primary accumulation of dermatan sulfate (DS) and heparan…
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Keywords:
mucopolysaccharidosis type;
hunter syndrome;
treatment;
mps hunter ... See more keywords
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Published in 2020 at "DNA and cell biology"
DOI: 10.1089/dna.2019.5221
Abstract: Hunter's syndrome (mucopolysaccharidosis type II) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene. Motivated by the case of a child affected by this syndrome, we compared the intracellular…
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Keywords:
hunter syndrome;
lysosomal quality;
control;
quality control ... See more keywords
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Published in 2019 at "Critical Care Medicine"
DOI: 10.1097/01.ccm.0000551930.81980.d9
Abstract: Learning Objectives: Hunter syndrome (MPS II) is a rare genetic disorder with accumulation of glycosaminoglycan resulting in short stature, hepatosplenomegaly, joint stiffness, cardiac valvular disease and airway involvement including macroglossia, tracheal deformities, laryngomalacia, and obstructive…
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Keywords:
patient;
hunter syndrome;
failure patient;
respiratory failure ... See more keywords
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Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-226518
Abstract: A case of Hunter syndrome, 6½-year-old boy presented with persistent thrombocytopenia and bleeding diathesis. However, cytopenia is not a usual presentation in patients with mucopolysaccharidosis II. After ruling out other causes of severe thrombocytopenia, a…
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Keywords:
ebv infection;
persistent thrombocytopenia;
thrombocytopenia;
hunter syndrome ... See more keywords
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Published in 2023 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-253834
Abstract: Paediatric Bow Hunter’s syndrome (BHS), or rotational vertebral artery syndrome, is a rare cause of posterior circulation insufficiency in children. It results from mechanical obstruction of the vertebral artery by the transverse process of cervical…
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Keywords:
hunter syndrome;
syndrome;
bow hunter;
dilated cardiomyopathy ... See more keywords