Cargando…

Hereditary sensory and autonomic neuropathies: types II, III, and IV

The hereditary sensory and autonomic neuropathies (HSAN) encompass a number of inherited disorders that are associated with sensory dysfunction (depressed reflexes, altered pain and temperature perception) and varying degrees of autonomic dysfunction (gastroesophageal reflux, postural hypotention, e...

Descripción completa

Detalles Bibliográficos
Autores principales:	Axelrod, Felicia B, Gold-von Simson, Gabrielle
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2007
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2098750/ https://www.ncbi.nlm.nih.gov/pubmed/17915006 http://dx.doi.org/10.1186/1750-1172-2-39

Ejemplares similares

Disturbances in affective touch in hereditary sensory & autonomic neuropathy type III
por: Macefield, Vaughan G., et al.
Publicado: (2014)

A case of hereditary sensory autonomic neuropathy type IV
por: Prashanth, G. P., et al.
Publicado: (2012)

Hereditary and Sensory Autonomic Neuropathies
por: Khaledi, Mojdeh, et al.
Publicado: (2012)

Keratoconus associated with hereditary sensory and autonomic neuropathy II
por: Shah, Zalak, et al.
Publicado: (2022)

A rare case of hereditary sensory and autonomic neuropathy type II
por: Mamytova, Elmira, et al.
Publicado: (2023)

Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome
por: Kim, Ju Young, et al.
Publicado: (2019)

Cardiac arrest after anesthetic management in a patient with hereditary sensory autonomic neuropathy type IV
por: Ergül, Yakup, et al.
Publicado: (2011)

Hereditary Sensory and Autonomic Neuropathy Type IV in 9 Year Old Boy: A Case Report
por: AZADVARI, Mohaddeseh, et al.
Publicado: (2016)

Oral manifestations and prosthetic rehabilitation in hereditary sensory and autonomic neuropathy (HSAN)type IV: a case report
por: Ofluoglu, Duygu, et al.
Publicado: (2016)

The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV
por: Sethi, Aditya, et al.
Publicado: (2020)

Hereditary sensory neuropathy type I
por: Auer-Grumbach, Michaela
Publicado: (2008)

A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)
por: Shaikh, Samiha S., et al.
Publicado: (2016)

Hereditary sensory and autonomic neuropathy type V: Report of a rare case
por: Kalaskar, Ritesh, et al.
Publicado: (2015)

Hereditary Sensory and Autonomic Neuropathy Type VIII: Congenital Insensitivity to Pain with Anhidrosis
por: Kusumesh, Rakhi, et al.
Publicado: (2022)

Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1
por: Fridman, Vera, et al.
Publicado: (2019)

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
por: Lischka, Annette, et al.
Publicado: (2023)

Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation
por: Rotthier, Annelies, et al.
Publicado: (2009)

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C
por: Auranen, Mari, et al.
Publicado: (2017)

NTRK1-related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test
por: Mirchi, Amytice, et al.
Publicado: (2022)

Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy
por: Yuan, Jun-Hui, et al.
Publicado: (2022)

Ankle Fracture in Hereditary Sensory Neuropathy Type 1
por: Loh, Jeremy, et al.
Publicado: (2021)

Demyelination in hereditary sensory neuropathy type‐1C
por: Saba, Sadaf, et al.
Publicado: (2020)

Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1
por: Oswald, Matthew C. W., et al.
Publicado: (2015)

Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE
por: Zheng, Wenxia, et al.
Publicado: (2018)

Natural history and biomarkers in hereditary sensory neuropathy type 1
por: Fridman, Vera, et al.
Publicado: (2015)

Tafamidis for autonomic neuropathy in hereditary transthyretin (ATTR) amyloidosis: a review
por: Cruz, Márcia Waddington
Publicado: (2019)

Hereditary Autonomic Neuropathy of the Oral Cavity and its Management
por: ESMAEILZADEH, Niloofar, et al.
Publicado: (2022)

Late onset hereditary sensory and autonomic neuropathy with cognitive impairment associated with Y163X prion mutation
por: Themistocleous, Andreas C., et al.
Publicado: (2014)

The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA
por: Wang, James Jiqi, et al.
Publicado: (2019)

Gastric emptying in hereditary transthyretin amyloidosis: the impact of autonomic neuropathy
por: Wixner, J, et al.
Publicado: (2012)

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy
por: Tarailo‐Graovac, Maja, et al.
Publicado: (2019)

Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family
por: Jin, Jie-Yuan, et al.
Publicado: (2020)

Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant
por: Gutierrez‐Quintana, Rodrigo, et al.
Publicado: (2021)

Taking Pain Out of NGF: A “Painless” NGF Mutant, Linked to Hereditary Sensory Autonomic Neuropathy Type V, with Full Neurotrophic Activity
por: Capsoni, Simona, et al.
Publicado: (2011)

V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I
por: Ho, Kwo Wei David, et al.
Publicado: (2018)

Acute Autonomic, Sensory and Motor Neuropathy Associated with Meningoencephalitis
por: Kinoshita, Satoko, et al.
Publicado: (2009)

Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement
por: Oh, Jung-Hwan, et al.
Publicado: (2014)

Talectomy for Equinovarus Deformity in Family Members with Hereditary Motor and Sensory Neuropathy Type I
por: Georgiev, Hristo, et al.
Publicado: (2014)

Painless Ulcers and Fissures of Toes: Hereditary Sensory Neuropathy, Not Leprosy
por: Rao, Angoori Gnaneshwar
Publicado: (2016)

Strategies to improve the quality of life in patients with hereditary transthyretin amyloidosis (hATTR) and autonomic neuropathy
por: Gendre, Thierry, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_n36u6mv28kf0sr7r2jrg7drp3m