Literature DB >> 27234403

Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.

G S Ribas1, H M Souza2, J de Mari3, M Deon3, C Mescka3, M L Saraiva-Pereira3, R Kessler3, F Trapp3, K Michelin3, M Burin3, C R Vargas4, R Giugliani5.   

Abstract

Entities:  

Keywords:  Chitotriosidase; Cholestane-3β,5α,6β-triol; Lysosomal diseases; Niemann–Pick type C; Oxysterols

Mesh：

Substances：

Year:  2016        PMID： 27234403     DOI： 10.1016/j.cca.2016.05.015

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  6 in total

1.  Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.

Authors:  Rohini Sidhu; Pamela Kell; Dennis J Dietzen; Nicole Y Farhat; An Ngoc Dang Do; Forbes D Porter; Elizabeth Berry-Kravis; Janine Reunert; Thorsten Marquardt; Roberto Giugliani; Charles M Lourenço; Raymond Y Wang; Nina Movsesyan; Ellen Plummer; Jean E Schaffer; Daniel S Ory; Xuntian Jiang
Journal:  Mol Genet Metab       Date:  2020-11-18       Impact factor: 4.797

2.  Advancing Diagnosis and Treatment of Niemann-Pick C disease through Biomarker Discovery.

Authors:  Xuntian Jiang; Daniel S Ory
Journal:  Explor Neuroprotective Ther       Date:  2021-12-30

3.  Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.

Authors:  Rohini Sidhu; Pamela Kell; Dennis J Dietzen; Nicole Y Farhat; An Ngoc Dang Do; Forbes D Porter; Elizabeth Berry-Kravis; Charles H Vite; Janine Reunert; Thorsten Marquardt; Roberto Giugliani; Charles M Lourenço; Olaf Bodamer; Raymond Y Wang; Ellen Plummer; Jean E Schaffer; Daniel S Ory; Xuntian Jiang
Journal:  Mol Genet Metab       Date:  2020-01-22       Impact factor: 4.204

Review 4.  Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism.

Authors:  Dominika Sitarska; Agnieszka Ługowska
Journal:  Metab Brain Dis       Date:  2019-06-13       Impact factor: 3.584

5.  Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease.

Authors:  Christin Völkner; Maik Liedtke; Robert Untucht; Andreas Hermann; Moritz J Frech
Journal:  Int J Mol Sci       Date:  2021-11-10       Impact factor: 5.923

Review 6.  Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Authors:  María-Jesús Sobrido; Peter Bauer; Tom de Koning; Thomas Klopstock; Yann Nadjar; Marc C Patterson; Matthis Synofzik; Chris J Hendriksz
Journal:  Orphanet J Rare Dis       Date:  2019-01-21       Impact factor: 4.123
  6 in total

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