Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease

Prurigo nodularis: an update on etiopathogenesis and therapy

(2013) Anna Chiara Fostini et al.   JOURNAL OF DERMATOLOGICAL TREATMENT

A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease

(2012) Smita I. Negi et al.   Journal of Clinical Lipidology

Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency

(2012) Tommaso Fasano et al.   MOLECULAR GENETICS AND METABOLISM

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

(2011) Carolina Tängemo et al.   JOURNAL OF LIPID RESEARCH

Changes in the atherogenic profile of patients with type 1 Gaucher disease after miglustat therapy

(2009) J. Puzo et al.   ATHEROSCLEROSIS

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

(2009) Marc C. Patterson et al.   JOURNAL OF CHILD NEUROLOGY

Severe HDL deficiency due to novel defects in the ABCA1 transporter

(2009) L. Pisciotta et al.   JOURNAL OF INTERNAL MEDICINE

Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations

(2009) Tatiana Fancello et al.   NEUROGENETICS