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GENETIC COUNSELLING FOR HUNTER SYNDROME
The Lancet, 1976no abstract ...
Epstein, C.j. +3 more
openaire +5 more sources
New England Journal of Medicine, 1969
Abstract Deficient activity of beta galactosidase was found in the skin of two siblings with Hunter's syndrome and their mother, a carrier of the sex-linked disorder.
openaire +4 more sources
Abstract Deficient activity of beta galactosidase was found in the skin of two siblings with Hunter's syndrome and their mother, a carrier of the sex-linked disorder.
openaire +4 more sources
World Neurosurgery, 2021
Bow hunter's syndrome is due to vertebrobasilar insufficiency caused by rotational compression of the vertebral artery. We report a case in which an osteophyte compressed the left vertebral artery causing cerebellar stroke. The patient underwent successful resection of the osteophyte via anterior surgical approach, and his symptoms of headache and ...
Brendan F, Judy, Nicholas, Theodore
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Bow hunter's syndrome is due to vertebrobasilar insufficiency caused by rotational compression of the vertebral artery. We report a case in which an osteophyte compressed the left vertebral artery causing cerebellar stroke. The patient underwent successful resection of the osteophyte via anterior surgical approach, and his symptoms of headache and ...
Brendan F, Judy, Nicholas, Theodore
openaire +3 more sources
JAMA Dermatology, 2022
This case report describes multiple symmetric, skin-colored papulonodules overlying the scapulae and posterior shoulders that gave the appearance of pebbled skin.
Piyush, Kumar +2 more
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This case report describes multiple symmetric, skin-colored papulonodules overlying the scapulae and posterior shoulders that gave the appearance of pebbled skin.
Piyush, Kumar +2 more
openaire +2 more sources
The Indian Journal of Pediatrics, 1978
A case of Hunter's syndrome in 6-year-old male child is described. Diagnosis was confirmed by the toludine blue ten which is a simple laboratory investigation and should be carried out in suspected ...
P, Chaturvedi, V K, Jain
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A case of Hunter's syndrome in 6-year-old male child is described. Diagnosis was confirmed by the toludine blue ten which is a simple laboratory investigation and should be carried out in suspected ...
P, Chaturvedi, V K, Jain
openaire +2 more sources
Tracheobronchomalacia in Hunter's syndrome
International Journal of Pediatric Otorhinolaryngology, 1993Hunter's syndrome is one of a group of heritable metabolic disorders caused by decreased activity of one or more of the lysosomal enzymes responsible for mucopolysaccharide catabolism, resulting in excessive deposition of mucopolysaccharides in skeletal and soft tissues.
J M, Morehead, D S, Parsons
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Bladder Obstruction in Hunter's Syndrome
Scandinavian Journal of Urology and Nephrology, 1999We report a case of bladder obstruction in a patient with Hunter's syndrome, presenting with acute painful symptomatology, due to the impossibility of voiding, which was diagnosed with ultrasonography and cystometrography. Intermittent catheterization with intravesical oxybutynin chloride lead to successful functional resolution of the obstruction.
Rigante D. +4 more
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