Browsing Research Articles (Paediatrics and Child Health) by Author "Welford, Richard W.D."

Browsing Research Articles (Paediatrics and Child Health) by Author "Welford, Richard W.D."

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  • Diagnostic tests for Niemann-pick disease type C (NP-C) : a critical review 
    Hendriksz, Christian J.; Vanier, Marie T.; Bauer, Peter; Coll, Maria J.; Burlina, Alberto; Latour, Philippe; Goizet, Cyril; Welford, Richard W.D.; Marquardt, Thorsten; Kolb, Stefan A.; Bauer, Peter (Elsevier, 2016-08)
    Niemann-Pick disease type C (NP-C) is a neurovisceral lysosomal cholesterol trafficking and lipid storage disorder caused by mutations in one of the two genes, NPC1 or NPC2. Diagnosis has often been a difficult task, due ...