Niemann-Pick Disease, A Pipeline Analysis Report 2018

Technavio has published a new report on the drug development pipeline for Niemann-pick disease, including a study of the pipeline molecules.

Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing

Metabolic Therapeutics - Pharma Proff

Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1

Consensus clinical management guidelines for Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

Prader-Willi Syndrome, A Drug Pipeline Analysis Report 2018, Technavio

Biomedicines, Free Full-Text

Niemann-Pick disease - Breda Genetics srl Breda Genetics srl

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

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CD164 is a host factor for lymphocytic choriomeningitis virus entry

Investigation of Brain Iron in Niemann-Pick Type C: A 7T Quantitative Susceptibility Mapping Study

Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and

Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease

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