Number of the records: 1
mukopolysacharidóza I
Record number d008059 Date 06.06.2025 Type M - MESH Topical term mukopolysacharidóza I Other term Slovak (Pseudonym) morbus Hurler-Scheie
Slovak (Pseudonym) Pfaundlerov-Hurlerovej syndróm
Slovak (Pseudonym) Hurlerovej syndróm
Slovak (Pseudonym) Hurlerovej choroba
Slovak (Pseudonym) Scheieho syndróm
Slovak (Pseudonym) mukopolysacharidóza 1
Slovak (Pseudonym) mukopolysacharidóza 5
Slovak (Pseudonym) mukopolysacharidóza I-S
Slovak (Pseudonym) mukopolysacharidóza typu I
Slovak (Pseudonym) mukopolysacharidóza typu Ih
Slovak (Pseudonym) mukopolysacharidóza typu Ih S
Slovak (Pseudonym) mukopolysacharidóza typu Is
Slovak (Pseudonym) mukopolysacharidóza V
Slovak (Pseudonym) lipochondrodystrofia
Slovak (Pseudonym) Hurlerovej-Scheieho syndróm
Slovak (Pseudonym) deficit alfa-L-iduronidázy
Slovak (Pseudonym) deficiencia alfa-L-iduronidázy
Slovak (Pseudonym) gargoylizmus
See also (Later heading) iduronidáza
(Skutočné meno) iduronidáza
(Skutočné meno) mukopolysacharidóza II
(Later heading) mukopolysacharidóza II
UDC C16.320.565.202.715.640C16.320.565.595.600.640C17.300.550.575.640C18.452.648.202.715.640C18.452.648.595.600.640 Note A group of autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding the enzyme, alpha-L-iduronidase (IDUA), required for the degradation of heparan and dermatan sulfates. This leads to abnormal accumulation of these glycosaminoglycans in various tissues causing a wide range of clinical presentations including cognitive and musculoskeletal disorders. 
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Number of the records: 1