Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures.
about
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B.A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.Astrocytes and lysosomal storage diseases.Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond.Genetic convergence of Parkinson's disease and lysosomal storage disorders.Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy.Genetic risk factors in Finnish patients with Parkinson's disease.A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.
P2860
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P2860
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures.
description
2002 nî lūn-bûn
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2002年の論文
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name
Niemann-Pick disease type B: a ...... multiple vertebral fractures.
@en
Niemann-Pick disease type B: a ...... multiple vertebral fractures.
@nl
type
label
Niemann-Pick disease type B: a ...... multiple vertebral fractures.
@en
Niemann-Pick disease type B: a ...... multiple vertebral fractures.
@nl
prefLabel
Niemann-Pick disease type B: a ...... multiple vertebral fractures.
@en
Niemann-Pick disease type B: a ...... multiple vertebral fractures.
@nl
P2093
P2860
P356
P1476
Niemann-Pick disease type B: a ...... multiple vertebral fractures.
@en
P2093
F P Luyten
G Matthijs
J Van Hove
M F Vincent
M T Vanier
Ph Vandekerckhove
R J U Lories
R Westhovens
P2860
P356
10.1002/AJMG.10278
P577
2002-04-01T00:00:00Z