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Mucopolysaccharidosis type II (Hunter syndrome) in a boy from the Republic of Serbia: A case report

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. A two-year-old boy was hospitalized and diagnosed with macrocephaly, hepatome...

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Wedi'i Gadw mewn:
Prif Awduron: Tubić-Vukajlović Jovana M., Bojović Lana P., Jevremović Nevena G., Simić Ivan B.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: University of Kragujevac, Faculty of Science 2023-01-01
Cyfres:Kragujevac Journal of Science
Pynciau:
mucopolysaccharidosis
hunter syndrome
ids gene
glycosaminoglycan
elaprase
Mynediad Ar-lein:https://scindeks-clanci.ceon.rs/data/pdf/1450-9636/2023/1450-96362345327T.pdf
Tagiau: Ychwanegu Tag
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