Cargando…

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

OBJECTIVE: Screening for Fabry disease in patients with small fiber neuropathy has been suggested, especially since Fabry disease is potentially treatable. However, the diagnostic yield of testing for Fabry disease in isolated small fiber neuropathy patients has never been systematically investigate...

Descripción completa

Detalles Bibliográficos
Autores principales:	de Greef, Bianca T. A., Hoeijmakers, Janneke G. J., Wolters, Emma E., Smeets, Hubertus J. M., van den Wijngaard, Arthur, Merkies, Ingemar S. J., Faber, Catharina G., Gerrits, Monique M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750945/ https://www.ncbi.nlm.nih.gov/pubmed/26866599 http://dx.doi.org/10.1371/journal.pone.0148316

Ejemplares similares

Intravenous immunoglobulin therapy for small fiber neuropathy: study protocol for a randomized controlled trial
por: de Greef, Bianca T. A., et al.
Publicado: (2016)

Efficacy, safety, and tolerability of lacosamide in patients with gain-of-function Na(v)1.7 mutation-related small fiber neuropathy: study protocol of a randomized controlled trial–the LENSS study
por: de Greef, Bianca T. A., et al.
Publicado: (2016)

Neuropathic Pain due to Small Fiber Neuropathy in Aging: Current Management and Future Prospects
por: Brouwer, Brigitte A., et al.
Publicado: (2015)

Intravenous Immunoglobulin Therapy in Patients With Painful Idiopathic Small Fiber Neuropathy
por: Geerts, Margot, et al.
Publicado: (2021)

Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy
por: Ślęczkowska, Milena, et al.
Publicado: (2022)

Differential effect of lacosamide on Na(v)1.7 variants from responsive and non-responsive patients with small fibre neuropathy
por: Labau, Julie I R, et al.
Publicado: (2020)

Anxiety and depression in small fiber neuropathy
por: Damci, Aysun, et al.
Publicado: (2022)

Associated conditions in small fiber neuropathy – a large cohort study and review of the literature
por: de Greef, B. T. A., et al.
Publicado: (2017)

Reconstructing the Rasch-Built Myotonic Dystrophy Type 1 Activity and Participation Scale
por: Hermans, Mieke C. E., et al.
Publicado: (2015)

Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy
por: Ślęczkowska, Milena, et al.
Publicado: (2022)

Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies
por: Almomani, Rowida, et al.
Publicado: (2023)

The applicability of the digit wrinkle scan to quantify sympathetic nerve function
por: Sopacua, Maurice, et al.
Publicado: (2022)

A painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca(2+) dysregulation and decrease in ATP levels
por: Rolyan, Harshvardhan, et al.
Publicado: (2016)

Pain triangle phenomenon in possible association with SCN9A: A case report
por: Sopacua, Maurice, et al.
Publicado: (2022)

Na(V)1.7: Stress-induced changes in immunoreactivity within magnocellular neurosecretory neurons of the supraoptic nucleus
por: Black, Joel A, et al.
Publicado: (2013)

Ion Channel Genes in Painful Neuropathies
por: Ślęczkowska, Milena, et al.
Publicado: (2023)

Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of Na(V)1.7
por: Estacion, Mark, et al.
Publicado: (2011)

A gain-of-function sodium channel β2-subunit mutation in painful diabetic neuropathy
por: Alsaloum, Matthew, et al.
Publicado: (2019)

Living with small fiber neuropathy: insights from qualitative focus group interviews
por: Damci, Aysun, et al.
Publicado: (2022)

Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing
por: Almomani, Rowida, et al.
Publicado: (2020)

Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing
por: Almomani, Rowida, et al.
Publicado: (2021)

Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study
por: Hermans, Mieke CE, et al.
Publicado: (2012)

Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease
por: Samuelsson, Kristin, et al.
Publicado: (2014)

Rasch analysis to evaluate the motor function measure for patients with facioscapulohumeral muscular dystrophy
por: Mul, Karlien, et al.
Publicado: (2020)

The minimum clinically important difference: which direction to take
por: Draak, T. H. P., et al.
Publicado: (2019)

Network topology of NaV1.7 mutations in sodium channel-related painful disorders
por: Kapetis, Dimos, et al.
Publicado: (2017)

Pain and autonomic dysfunction in patients with sarcoidosis and small fibre neuropathy
por: Bakkers, M., et al.
Publicado: (2010)

Sodium channel Nav1.7 in vascular myocytes, endothelium, and innervating axons in human skin
por: Rice, Frank L, et al.
Publicado: (2015)

Acceptability, usability and feasibility of experienced sampling method in chronic secondary pain syndromes
por: Damci, Aysun, et al.
Publicado: (2023)

Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy
por: Andelic, Mirna, et al.
Publicado: (2023)

Diabetic Neuropathy Is Characterized by Progressive Corneal Nerve Fiber Loss in the Central and Inferior Whorl Regions
por: Ferdousi, Maryam, et al.
Publicado: (2020)

Change over time in ability to perform activities of daily living in myotonic dystrophy type 1
por: Landfeldt, Erik, et al.
Publicado: (2020)

Hydropathicity-based prediction of pain-causing NaV1.7 variants
por: Xenakis, Makros N., et al.
Publicado: (2021)

Skin biopsy and small fibre neuropathies: facts and thoughts 30 years later
por: Lauria, Giuseppe, et al.
Publicado: (2022)

Fiber-Optic Fabry-Pérot Interferometers for Axial Force Sensing on the Tip of a Needle
por: Beekmans, Steven, et al.
Publicado: (2016)

The facioscapulohumeral muscular dystrophy Rasch‐built overall disability scale (FSHD‐RODS)
por: Mul, Karlien, et al.
Publicado: (2021)

An Acoustic Sensor Based on Active Fiber Fabry–Pérot Microcavities
por: Gao, Xin-Xia, et al.
Publicado: (2020)

An All-Fiber Fabry–Pérot Sensor for Emulsion Concentration Measurements
por: Pevec, Simon, et al.
Publicado: (2023)

The correlation of small fiber neuropathy with pain intensity and age in patients with Fabry's disease: A cross sectional study within a large Taiwanese family
por: Liao, Ming-Feng, et al.
Publicado: (2022)

Migalastat: A Review in Fabry Disease
por: McCafferty, Emma H., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_4daeu2aevpb7408pk7q0tpk2d3