Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016

Therapeutic Strategies for Gaucher Disease: Miglustat (NB-DNJ) as a Pharmacological Chaperone for Glucocerebrosidase and the Different Thermostability of Velaglucerase Alfa and Imiglucerase

Apostolos PAPANDREOU, Great Ormond Street Hospital for Children NHS Foundation Trust, London, GOSH, Department of Neurology

3 H-cholesterol efflux to Apo A-I in cultured skin fibroblasts. Cells

IJMS June-2 2023 - Browse Articles

PDF) Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

IJMS June-2 2023 - Browse Articles

PDF) Diagnostic workup and management of patients with suspected Niemann-Pick type C disease

Comparison of HMMSplicer, SOAPsplice, STAR, and TopHat.

PDF) Diagnostic workup and management of patients with suspected Niemann-Pick type C disease

PDF) Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

PDF) 2-Hydroxypropyl-β-cyclodextrins and the Blood-Brain Barrier: Considerations for Niemann-Pick Disease Type C1

PDF) A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS

3 H-cholesterol efflux to Apo A-I in cultured skin fibroblasts. Cells

Mean Urinary Levels of Biomarkers in DEAEH Treatment Groups DEAEH Dose