Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
about
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.Cirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthood.Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type AClearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase DeficiencyDisease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity.Types A and B Niemann-Pick disease.
P2860
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P2860
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Acid sphingomyelinase (Asm) de ...... course in attenuated patients.
@ast
Acid sphingomyelinase (Asm) de ...... course in attenuated patients.
@en
type
label
Acid sphingomyelinase (Asm) de ...... course in attenuated patients.
@ast
Acid sphingomyelinase (Asm) de ...... course in attenuated patients.
@en
prefLabel
Acid sphingomyelinase (Asm) de ...... course in attenuated patients.
@ast
Acid sphingomyelinase (Asm) de ...... course in attenuated patients.
@en
P2093
P1476
Acid sphingomyelinase (Asm) de ...... course in attenuated patients
@en
P2093
B J H M Poorthuis
C E M Hollak
D Cassiman
E Akkerman
E S V de Sonnaville
F A Wijburg
G E Linthorst
P304
P356
10.1016/J.YMGME.2012.06.015
P577
2012-06-30T00:00:00Z