Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
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The role of saposin C in Gaucher diseaseViable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synucleinThe French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.Gaucher disease: insights from a rare Mendelian disorder.Lysosomal storage disorders in the newborn.Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries.In utero administration of Ad5 and AAV pseudotypes to the fetal brain leads to efficient, widespread and long-term gene expression.Perinatal lethal Gaucher disease.Phenotypic variability of prenatally presenting Gaucher's diseaseScientific correspondence
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P2860
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年學術文章
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2005年學術文章
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name
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
@ast
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
@en
type
label
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
@ast
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
@en
prefLabel
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
@ast
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
@en
P2093
P2860
P1476
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
@en
P2093
Ellen Sidransky
Michael J Eblan
Ozlem Goker-Alpan
P2860
P304
P356
10.1080/15227950500405296
P577
2005-07-01T00:00:00Z