Results 61 to 70 of about 3,855 (201)
New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
Therapeutics and Clinical Risk Management, 2009 James E Wraith, Jackie ImrieWillink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UKAbstract: Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive ...
James E Wraith, Jackie Imrie
doaj
, 2015 Niemann-Pick Type C disease (NPC) is a rare genetic disorder of lipid metabolism. A parameter related to horizontal saccadic peak velocity was one of the primary outcome measures in the clinical trial assessing miglustat as a treatment for NPC ...
Christopher L. Adamson +9 more
core +1 more source
A case of Niemann – Pick disease type C
Неврология, нейропсихиатрия, психосоматика, 2013 The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov +2 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2020 Study objectives Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accumulation of cholesterol and glycosphingolipids.
A. Imanishi +13 more
doaj +1 more source
Precision medicine in cats:novel niemann-pick type C1 diagnosed by whole-genome sequencing [PDF]
, 2017 State-of-the-art health care includes genome sequencing of the patient to identify genetic variants that contribute to either the cause of their malady or variants that can be targeted to improve treatment.
1 +39 more
core +1 more source
Brain Pathology, Volume 36, Issue 1, January 2026.Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li +7 more
wiley +1 more source
Application of a policy framework for the public funding of drugs for rare diseases [PDF]
, 2014 BACKGROUND: In many countries, decisions about the public funding of drugs are preferentially based on the results of randomized trials. For truly rare diseases, such trials are not typically available, and approaches by public payers are highly variable.
Christine Seager +10 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello +7 more
wiley +1 more source
Bone events and evolution of biologic markers in Gaucher disease before and during treatment [PDF]
, 2010 25 pagesInternational audienceINTRODUCTION : Known biomarkers of Gaucher-disease activity are platelets, chitotriosidase, angiotensin-converting enzyme (ACE), tartrate-resistant acid phosphatase (TRAP) and ferritin.
Jerome Stirnemann +5 more
core +3 more sources
The Concise Guide to PHARMACOLOGY 2025/26: Enzymes
British Journal of Pharmacology, Volume 182, Issue S1, Page S307-S403, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +31 more
wiley +1 more source