Results 31 to 40 of about 162,965 (256)
Mucopolysaccharidosis type II (Hunter syndrome) in a boy from the Republic of Serbia: A case report [PDF]
Kragujevac Journal of Science, 2023 Mucopolysaccharidosis type II or Hunter syndrome is a hereditary, progressive disease that occurs due to the deposition of acidic glucosaminoglycans in lysosomes, due to hereditary deficits of specific degradation enzymes.
Tubić-Vukajlović Jovana M. +3 more
doaj
A Right to Choose?: Sex Selection in the International Context [PDF]
, 2007 While there is some debate among doctors, ethicists, and the general public about the level of medical necessity that should justify a sex-selection procedure, most accept that sex selection for medical reasons is beyond ethical reproach, and in some ...
Bumgarner, Ashley
core +2 more sources
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase
Nature Communications, 2017 Hunter syndrome is a lysosomal storage disease caused by mutations in the enzyme iduronate-2-sulfatase (IDS). Here, the authors present the IDS crystal structure and give mechanistic insights into mutations that cause Hunter syndrome.
Mykhaylo Demydchuk +7 more
doaj +1 more source
Is the abundance of Faecalibacterium prausnitzii relevant to Crohn's disease? [PDF]
, 2010 Reports that bacteria within the Firmicutes phylum, especially the species Faecalibacterium prausnitzii, are less abundant in Crohn’s disease (CD) patients and supernatants from cultures of this bacterium are anti-inflammatory prompted the investigation ...
Aminov +38 more
core +2 more sources
Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients
Case Reports in Pediatrics, 2016 Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function ...
Munier A. Nour +4 more
doaj +1 more source
Current Approaches to the Treatment of Hunter Syndrome
Педиатрическая фармакология, 2018 Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked hereditary disorder associated with a deficiency of iduronate2-sulfatase (IDS). IDS deficiency provokes the accumulation of dermatan sulfate and heparan sulfate in different tissues ...
Ekaterina Yu. Zakharova +6 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2014 Patients with Hunter syndrome (mucopolysaccharidosis II) present with skeletal dysplasia including short stature as well as CNS and visceral organ involvement.
Pravin Patel +10 more
doaj +1 more source
Stem Cell Research, 2019 Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S).
Junjie Hong +8 more
doaj +1 more source
JIMD Reports, 2021 Mucopolysaccharidosis type II (MPS II) is a multi‐systemic disorder arising due to pathogenic variants in the gene located on chromosome Xq28 encoding the lysosomal enzyme, iduronate 2‐sulfatase (IDS).
Maria Fuller, David Ketteridge
doaj +1 more source
Autism Spectrum Disorder in a Child With Hunter Syndrome
Psychiatry and Clinical Psychopharmacology, 2021 Mucopolysaccharidoses (MPS) include a group of chronic and progressive lysosomal storage disorders (LSD) which are characterized by the absence or deficiency of specific lysosomal enzymes.
Hasan Can Ozbay +5 more
doaj +1 more source