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 …

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 …

Small fiber neuropathy in Fabry disease

M Biegstraaten, CEM Hollak, M Bakkers… - Molecular Genetics and …, 2012 - Elsevier
Previous studies have explicitly shown that small nerve fibers are affected in Fabry disease
which is assumed to cause the severe neuropathic pain that patients may have from …

Small fibers in Fabry disease: baseline and follow‐up data under enzyme replacement therapy

N Üçeyler, L He, D Schönfeld, AK Kahn… - Journal of the …, 2011 - Wiley Online Library
Fabry disease (FD) is an X‐linked lysosomal storage disorder which may lead to impaired
peripheral nerve function, mostly affecting small nerve fibers, and to neuropathic pain …

[HTML][HTML] Fabry disease pain: patient and preclinical parallels

AJ Burand Jr, CL Stucky - Pain, 2021 - journals.lww.com
Severe neuropathic pain is a hallmark of Fabry disease, a genetic disorder caused by a
deficiency in lysosomal α-galactosidase A. Pain experienced by these patients significantly …

Pathophysiology and assessment of neuropathic pain in Fabry disease

R Schiffmann, LJC Scott - Acta Pædiatrica, 2002 - Wiley Online Library
Severe neuropathic pain and hypohidrosis are important symptoms of Fabry disease,
particularly in the first three decades of life. The pain is associated with a length‐dependent …

Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy—a retrospective analysis from the Fabry Outcome Survey

B Hoffmann, M Beck, G Sunder-Plassmann… - The Clinical journal …, 2007 - journals.lww.com
Background Fabry disease is a multisystemic life-threatening lysosomal storage disorder
caused by deficiency of α-galactosidase A. Symptoms of the disease may occur in different …

Characterization of pain in Fabry disease

N Üçeyler, S Ganendiran, D Kramer… - The Clinical journal of …, 2014 - journals.lww.com
Objective: To give a detailed characterization of pain in a large cohort of patients with Fabry
disease. Patients and Methods: In this single-center, retrospective study we performed a …

Neurology of Fabry disease

M Low, K Nicholls, N Tubridy, P Hand… - Internal medicine …, 2007 - Wiley Online Library
Background: Fabry disease has diverse neurological manifestations, many of which
influence morbidity and quality of life. Aims: The aim of the study was to document the …

Detection of a characteristic painful neuropathy in Fabry disease: a pilot study

R Maag, A Binder, C Maier, A Scherens, T Toelle… - Pain …, 2008 - academic.oup.com
Objective. Fabry disease (FD) is an X-linked lipid storage disorder showing a high
prevalence and early occurrence of painful neuropathy. Early detection of this likely …