Publications:

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

Ebiomedicine

Reunert, Janine J; Fobker, Manfred M; Kannenberg, Frank F; Du Chesne, Ingrid I; Plate, Maria M; Wellhausen, Judith J; Rust, Stephan S; Marquardt, Thorsten T

Publication Date: 2016-02

Variant appearance in text: NPC1: P733R

PubMed Link: 26981555

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

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Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.

Orphanet Journal Of Rare Diseases

Jahnova, Helena H; Dvorakova, Lenka L; Vlaskova, Hana H; Hulkova, Helena H; Poupetova, Helena H; Hrebicek, Martin M; Jesina, Pavel P

Publication Date: 2014-09-19

Variant appearance in text: NPC1: 2198C>G; P733R

PubMed Link: 25236789

Variant Present in the following documents:

• Main text
• 13023_2014_Article_140.pdf

View BVdb publication page