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

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

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

Peter CLAYTON, University College London, London, UCL, Institute of Child Health

P. MILLS, University College London, London, UCL

PDF) Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1

Comparison of HMMSplicer, SOAPsplice, STAR, and TopHat.

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

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

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

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

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

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

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