Niemann-Pick Diseases - The Medical Biochemistry Page
Por um escritor misterioso
Last updated 05 setembro 2024
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The Niemann-Pick Diseases page discusses the genetics and clinical features of these related lysosomal storage diseases.
![Niemann-Pick Diseases - The Medical Biochemistry Page](https://onlinelibrary.wiley.com/cms/asset/66b9a2ed-53f9-4b11-9664-d5323ce99a97/dmcn15334-toc-0001-m.png)
Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders - Papandreou - 2022 - Developmental Medicine & Child Neurology - Wiley Online Library
![Niemann-Pick Diseases - The Medical Biochemistry Page](https://www.frontiersin.org/files/Articles/304222/fphys-08-00982-HTML/image_m/fphys-08-00982-g001.jpg)
Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease
![Niemann-Pick Diseases - The Medical Biochemistry Page](https://journals.sagepub.com/cms/10.1177/1756285616635964/asset/images/large/10.1177_1756285616635964-fig1.jpeg)
Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016
![Niemann-Pick Diseases - The Medical Biochemistry Page](https://static.hindawi.com/articles/omcl/volume-2012/205713/figures/205713.fig.001.jpg)
Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C Disease
![Niemann-Pick Diseases - The Medical Biochemistry Page](https://ars.els-cdn.com/content/image/1-s2.0-S0939641118309627-ga1.jpg)
Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation - ScienceDirect
![Niemann-Pick Diseases - The Medical Biochemistry Page](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs13023-018-0913-4/MediaObjects/13023_2018_913_Fig2_HTML.png)
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, Orphanet Journal of Rare Diseases
![Niemann-Pick Diseases - The Medical Biochemistry Page](https://d3i71xaburhd42.cloudfront.net/ede8b90c4b47da342de3c25d72b147dddb0bb92c/11-Table1-1.png)
Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.
![Niemann-Pick Diseases - The Medical Biochemistry Page](https://files.rcsb.org/pub/pdb/validation_reports/u7/5u73/5u73_multipercentile_validation.png)
RCSB PDB - 5U73: Crystal structure of human Niemann-Pick C1 protein
![Niemann-Pick Diseases - The Medical Biochemistry Page](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs13023-018-0913-4/MediaObjects/13023_2018_913_Fig6_HTML.png)
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, Orphanet Journal of Rare Diseases
![Niemann-Pick Diseases - The Medical Biochemistry Page](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41598-019-41707-y/MediaObjects/41598_2019_41707_Fig1_HTML.png)
Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization
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