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 …
pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry …
Small-fibre neuropathies—advances in diagnosis, pathophysiology and management
JG Hoeijmakers, CG Faber, G Lauria… - Nature reviews …, 2012 - nature.com
Abstract Small-fibre neuropathy (SFN), a disorder of thinly myelinated Aδ-fibres and
unmyelinated C-fibres, is clinically characterized by neuropathic pain symptoms and …
unmyelinated C-fibres, is clinically characterized by neuropathic pain symptoms and …
[HTML][HTML] Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes”(KDIGO) …
Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease
and cardiovascular disease. The availability of specific but costly therapy has elevated the …
and cardiovascular disease. The availability of specific but costly therapy has elevated the …
The management and treatment of children with Fabry disease: a United States-based perspective
Fabry disease is an inherited X-linked disorder that presents during childhood in male and
female patients. Young patients may initially experience pain, hypohidrosis, and …
female patients. Young patients may initially experience pain, hypohidrosis, and …
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 …
galactosidase A enzyme. This X-linked genetic disease realizes progressive and systemic …
Corneal confocal microscopy: ready for prime time
Corneal confocal microscopy is a non‐invasive ophthalmic imaging modality, which was
initially used for the diagnosis and management of corneal diseases. However, over the last …
initially used for the diagnosis and management of corneal diseases. However, over the last …
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 …
neuropathy at an early age, with pain being a crucial symptom of underlying pathology …
Diagnosis and screening of patients with Fabry disease
I Vardarli, C Rischpler, K Herrmann… - … and clinical risk …, 2020 - Taylor & Francis
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by absence or
deficient activity of α-galactosidase A (α-Gal A) due to mutations in the α-galactosidase A …
deficient activity of α-galactosidase A (α-Gal A) due to mutations in the α-galactosidase A …
Small fibre neuropathy
G Lauria, ISJ Merkies, CG Faber - Current opinion in neurology, 2012 - journals.lww.com
SFN represents a distinct condition encountered in patients with different acquired and
genetic disorders. The recent improved definition of clinical and skin biopsy criteria allows …
genetic disorders. The recent improved definition of clinical and skin biopsy criteria allows …
Fabry disease in infancy and early childhood: a systematic literature review
Purpose: Fabry disease is a pan-ethnic, progressive, X-linked genetic disorder that
commonly presents in childhood and is caused by deficient activity of the lysosomal enzyme …
commonly presents in childhood and is caused by deficient activity of the lysosomal enzyme …