Fabry disease

DP Germain - Orphanet journal of rare diseases, 2010 - Springer
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid
metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic …

[HTML][HTML] Brain membrane lipids in major depression and anxiety disorders

CP Müller, M Reichel, C Mühle, C Rhein… - … et Biophysica Acta (BBA …, 2015 - Elsevier
Major depression and anxiety disorders have high prevalence rates and are frequently
comorbid. The neurobiological bases for these disorders are not fully understood, and …

European expert consensus statement on therapeutic goals in Fabry disease

C Wanner, M Arad, R Baron, A Burlina, PM Elliott… - Molecular genetics and …, 2018 - Elsevier
Background Fabry disease, an inherited lysosomal storage disorder, causes multi-organ
pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry …

Circulating metabolites modulated by diet are associated with depression

A van der Spek, ID Stewart, B Kühnel, M Pietzner… - Molecular …, 2023 - nature.com
Metabolome reflects the interplay of genome and exposome at molecular level and thus can
provide deep insights into the pathogenesis of a complex disease like major depression. To …

Neurological diseases and pain

D Borsook - Brain, 2012 - academic.oup.com
Chronic pain is a frequent component of many neurological disorders, affecting 20–40% of
patients for many primary neurological diseases. These diseases result from a wide range of …

Fabry disease: a review of current management strategies

A Mehta, M Beck, F Eyskens, C Feliciani… - … Journal of Medicine, 2010 - academic.oup.com
Fabry disease is an X-linked inherited condition due to the absence or reduction of α-
galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide …

When and how to diagnose Fabry disease in clinical pratice

M Michaud, W Mauhin, N Belmatoug, R Garnotel… - The American journal of …, 2020 - Elsevier
Fabry disease is a frequent lysosomal storage disorder secondary to the deficiency of alpha-
galactosidase A enzyme. This X-linked genetic disease realizes progressive and systemic …

Pain in Fabry disease: practical recommendations for diagnosis and treatment

JM Politei, D Bouhassira, DP Germain… - CNS neuroscience & …, 2016 - Wiley Online Library
Summary Aims Patients with Fabry disease (FD) characteristically develop peripheral
neuropathy at an early age, with pain being a crucial symptom of underlying pathology …

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

AP Burlina, KB Sims, JM Politei, GJ Bennett, R Baron… - BMC neurology, 2011 - Springer
Background Fabry disease is an inherited metabolic disorder characterized by progressive
lysosomal accumulation of lipids in a variety of cell types, including neural cells. Small …

Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 …

PB Deegan, O Goker-Alpan, T Geberhiwot… - Molecular genetics and …, 2023 - Elsevier
Venglustat inhibits the enzymatic conversion of ceramide to glucosylceramide, reducing
available substrate for the synthesis of more complex glycosphingolipids. It offers a potential …