Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.
about
Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseasesSanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.Diagnosing mucopolysaccharidosis IVADegradation of keratan sulphate by beta-N-acetylhexosaminidases A and B.
P2860
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.
description
1980 nî lūn-bûn
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1980年の論文
@ja
1980年論文
@yue
1980年論文
@zh-hant
1980年論文
@zh-hk
1980年論文
@zh-mo
1980年論文
@zh-tw
1980年论文
@wuu
1980年论文
@zh
1980年论文
@zh-cn
name
Morquio syndrome (mucopolysacc ...... ficiency. Report of two cases.
@en
type
label
Morquio syndrome (mucopolysacc ...... ficiency. Report of two cases.
@en
prefLabel
Morquio syndrome (mucopolysacc ...... ficiency. Report of two cases.
@en
P2093
P2860
P1476
Morquio syndrome (mucopolysacc ...... eficiency. Report of two cases
@en
P2093
Schmidberger H
von Figura K
P2860
P304
P407
P577
1980-03-01T00:00:00Z