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 +5 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
Hurler holes in Hunter syndrome. [PDF]
BMJ Case Rep, 2021 A 16-year-old male presented to our hospital with complaints of mild mental retardation, umbilical and bilateral inguinal hernias, distended abdomen, profound bilateral hearing loss and recent onset seizures. On physical examination, he had a short stature, thick rough skin, depressed nasal bridge,
Sharma R, Sharma V, Tiwari T, Goyal S.
europepmc +4 more sources
Simultaneous Opposition Tendon Transfer with Median Nerve Decompression for Severe Bilateral Carpal Tunnel Syndrome in Adolescents with Hunter Syndrome: A Case Report [PDF]
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 +2 more sources
The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome [PDF]
Molecular Genetics and Metabolism Reports, 2020 In neuronopathic Hunter syndrome, neurobehavioral symptoms are known to be serious but have been incompletely described. While families face significant stress stemming from this complex and far-reaching array of symptoms, neither caregiver burden nor ...
J.B. Eisengart +4 more
doaj +2 more sources
Transabdominal preperitoneal repair for an adolescent patient with Hunter syndrome: a case report [PDF]
Surgical Case Reports, 2019 Background Hunter syndrome is an X-linked disorder caused by a deficit of the lysosomal enzyme iduronate-2-sulfatase and is associated with many disorders. Patients with Hunter syndrome often develop inguinal hernias in early childhood and undergo Potts’
Yoichiro Tada +11 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