Results 131 to 140 of about 1,205 (182)

Congenital Insensitivity to Pain and Anhidrosis. [PDF]

open access: yesArch Plast Surg, 2016
Shin JY   +4 more
europepmc   +1 more source

Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. [PDF]

open access: yesMol Pain, 2018
Geng X   +7 more
europepmc   +1 more source

[Congenital insensitivity to pain with anhidrosis in the literature].

open access: yesArchivos argentinos de pediatria, 2016
Pedro, Gargantilla, Emilio, Pintor
openaire   +1 more source

Congenital insensitivity to pain with anhidrosis

Pediatric Neurology, 2001
Congenital insensitivity to pain with anhidrosis is an autosomal-recessive disorder resulting from defective neural crest differentiation with loss of the first-order afferent system, which is responsible for pain and temperature sensation. There is also a neuronal loss in the sympathetic ganglia. Lack of sweating, hyperthermia, and infections of bones
L, Sztriha   +4 more
openaire   +2 more sources

Congenital insensitivity to pain with anhidrosis

Muscle & Nerve, 1980
AbstractA nine‐year‐old child presented with congenital insensitivity to pain and anhidrosis. Quantitative studies and electron microscopy of the cutaneous branch of the radial nerve revealed almost complete absence of small myelinated and unmyelinated fibers and a disproportionate number of nerve fibers with a diameter of 6–10 μm.
E, Rafel   +4 more
openaire   +2 more sources

Muscle involvement in congenital insensitivity to pain with anhidrosis

Pediatric Neurology, 1995
A patient with congenital insensitivity to pain with anhidrosis, who had characteristic clinical features and biopsied sural nerve, is presented. Nerve pathology findings indicated a loss of the small myelinated and unmyelinated fibers. Biopsied muscle disclosed a marked variation in fiber size, some small fibers with central nuclei, and a small number
N, Tachi   +4 more
openaire   +2 more sources

Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis

neurogenetics, 2008
Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene, which encodes the receptor for nerve growth factor. We report the clinical course of a 7-year-old girl with CIPA and proven NTRK1 mutation.
Kilic, SARA ŞEBNEM   +5 more
openaire   +4 more sources

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