Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.
about
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive declineDevelopment of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type BIdentification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).Biosynthesis and maturation of alpha-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts.Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector.
P2860
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.
description
1979 nî lūn-bûn
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1979年の論文
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1979年学术文章
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1979年学术文章
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1979年学术文章
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1979年学术文章
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1979年學術文章
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1979年學術文章
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1979年學術文章
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name
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.
@en
Sanfilippo B syndrome
@nl
type
label
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.
@en
Sanfilippo B syndrome
@nl
prefLabel
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.
@en
Sanfilippo B syndrome
@nl
P2093
P1433
P1476
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.
@en
P2093
Del Giudice E
Di Natale P
Strisciuglio P
P304
P577
1979-06-01T00:00:00Z