Early Diagnosis and Results of Enzyme Replacement Therapy in the Patient with Mucopolysaccharidosis Type VI: Clinical Case

Background. Mucopolysaccharidosis type VI (MPS VI, Maroteaux–Lamy syndrome) is rare autosomal-recessive multisystem disease, one of the group of lysosomal storage diseases. The MPS VI pathogenesis is determined by arylsulfatase B enzyme deficiency caused by mutations in the ARSB gene. There are only...

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Hlavní autoři:	Dmitry V. Ivanov, Anna I. Ostrun, Vladimir M. Kenis, Tatiana V. Markova, Ekaterina Yu. Zakharova
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	"Paediatrician" Publishers LLC 2021-12-01
Edice:	Вопросы современной педиатрии
Témata:	mucopolysaccharidosis type vi maroteaux–lamy syndrome early diagnosis enzyme replacement therapy galsulfase clinical case
On-line přístup:	https://vsp.spr-journal.ru/jour/article/view/2776
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