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about
sameAs
Niemann-Pick disease, type C1Niemann-Pick disease, type C2Niemann-Pick disease type C, severe perinatal formNiemann-Pick disease type C, severe early infantile neurologic onsetNiemann-Pick disease type C, late infantile neurologic onsetNiemann-Pick disease type C, juvenile neurologic onsetNiemann-Pick disease type C, adult neurologic onset
P279
Niemann-Pick disease type CDysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustatGenetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type CPulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.2-hydroxypropyl-β-cyclodextrins and the Blood-Brain Barrier: Considerations for Niemann-Pick Disease Type C1.Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer.Miglustat in Niemann-Pick disease type C patients: a reviewRecommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism
P921
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P279
Q21202883-fe9e2255-416d-47e8-8162-dc7e86dcae9dQ26825102-5EA1BE97-5EBC-41B4-9ED0-E8DFB6A901F2Q27006043-EAC4EE04-065B-4181-8301-875679994C08Q36251748-4B1BE249-70FF-4261-87EA-F3917C5D9B88Q46275847-377D53DC-1CD6-4D46-877B-89C5CF2A98B5Q49950524-1B9EAE92-F337-4B95-AF53-C736516043B7Q58778074-b15d47a8-4ad6-dac5-7149-bc4b15b4b0f4Q61446055-7a898344-405e-bfc1-4097-2792c23bc96dQ92736824-50744809-3F44-41BC-A944-C9517073D547
P921
description
autosomal recessive lipid stor ...... and the central nervous system
@en
autozomálně recesivní onemocnění
@cs
name
C型尼曼匹克氏症
@zh
Maladie de Niemann-Pick type C
@fr
Niemannova-Pickova choroba typu C
@cs
Niemann–Pick disease, type C
@en
Ziekte van Niemann-Pick type C
@nl
Болезнь Ниманна — Пика, тип C
@ru
داء نيمان-بيك، النمط ج
@ar
ニーマン・ピック病C型
@ja
type
label
C型尼曼匹克氏症
@zh
Maladie de Niemann-Pick type C
@fr
Niemannova-Pickova choroba typu C
@cs
Niemann–Pick disease, type C
@en
Ziekte van Niemann-Pick type C
@nl
Болезнь Ниманна — Пика, тип C
@ru
داء نيمان-بيك، النمط ج
@ar
ニーマン・ピック病C型
@ja
altLabel
Niemann-Pick disease, type C
@en
Niemann-Pickova choroba
@cs
Niemann-Pickova nemoc
@cs
Болезнь Ниманна — Пика тип C
@ru
prefLabel
C型尼曼匹克氏症
@zh
Maladie de Niemann-Pick type C
@fr
Niemannova-Pickova choroba typu C
@cs
Niemann–Pick disease, type C
@en
Ziekte van Niemann-Pick type C
@nl
Болезнь Ниманна — Пика, тип C
@ru
داء نيمان-بيك، النمط ج
@ar
ニーマン・ピック病C型
@ja
P279
P492
P672
P486
P6366
P646
P672
P1193
0.00000667
P2888
P2892
P4229
P486
P5270
MONDO:0018982
P6366
2780635549
P646
/m/04yfxyn
P672
C10.228.140.163.100.435.825.700.875
C15.604.250.410.625.875
C16.320.565.189.435.825.700.875
C16.320.565.398.641.803.730.875
C16.320.565.595.554.825.700.875
C18.452.132.100.435.825.700.875
C18.452.584.687.803.730.875
C18.452.648.189.435.825.700.875
C18.452.648.398.641.803.730.875
C18.452.648.595.554.825.700.875