Publications:

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

Febs Letters

Mazzacuva, Francesca F; Mills, Philippa P; Mills, Kevin K; Camuzeaux, Stephane S; Gissen, Paul P; Nicoli, Elena-Raluca ER; Wassif, Christopher C; Te Vruchte, Danielle D; Porter, Forbes D FD; Maekawa, Masamitsu M; Mano, Nariyasu N; Iida, Takashi T; Platt, Frances F; Clayton, Peter T PT

Publication Date: 2016-06

Variant appearance in text: NPC1: A470P

PubMed Link: 27139891

Variant Present in the following documents:

• FEB2-590-1651-s001.pdf

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Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.

Bmc Neurology

Imrie, Jackie J; Heptinstall, Lesley L; Knight, Stephen S; Strong, Kate K

Publication Date: 2015-12-15

Variant appearance in text: NPC1: 1408G>C

PubMed Link: 26666848

Variant Present in the following documents:

• Main text
• 12883_2015_Article_511.pdf

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Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

Jimd Reports

Al-Jasmi, Fatma A FA; Tawfig, Nafisa N; Berniah, Ans A; Ali, Bassam R BR; Taleb, Mahmoud M; Hertecant, Jozef L JL; Bastaki, Fatma F; Souid, Abdul-Kader AK

Publication Date: 2013

Variant appearance in text: NPC1: 1408G>C; A470P

PubMed Link: 23430803

Variant Present in the following documents:

• Main text

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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Orphanet Journal Of Rare Diseases

Héron, Bénédicte B; Valayannopoulos, Vassili V; Baruteau, Julien J; Chabrol, Brigitte B; Ogier, Hélène H; Latour, Philippe P; Dobbelaere, Dries D; Eyer, Didier D; Labarthe, François F; Maurey, Hélène H; Cuisset, Jean-Marie JM; de Villemeur, Thierry Billette TB; Sedel, Frédéric F; Vanier, Marie T MT

Publication Date: 2012-06-07

Variant appearance in text: NPC1: A470P

PubMed Link: 22676771

Variant Present in the following documents:

• Main text
• 1750-1172-7-36.pdf

View BVdb publication page