Results 11 to 20 of about 30,229 (249)
Hunter syndrome with persistent thrombocytopenia. [PDF]
BMJ Case Rep, 2019 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 clinical possibility of chronic Epstein-Barr virus (EBV) infection was considered.
Panigrahi I +3 more
europepmc +4 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
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
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
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
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