Results 111 to 120 of about 8,115 (216)

Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis

Journal of Pain Research, 2019
Ningbo Li,1 Shanna Guo,1 Qingli Wang,2 Guangyou Duan,3 Jiaoli Sun,1 Yi Liu,1 Jin Zhang,1 Cong Wang,1 Changmao Zhu,1 Jingyu Liu,4 Xianwei Zhang1 1Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and ...
Li N, Guo S, Wang Q, Duan G, Sun J, Liu Y, Zhang J, Wang C, Zhu C, Liu J, Zhang X   +10 more
doaj  

Congenital insensitivity to pain with anhidrosis

Journal of the Pakistan Medical Association
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is characterised by disruption of sensory neurons caused by genetic mutations in the Neurotrophic Tyrosine Kinase 1 (NTRK1) gene which leads to impaired pain sensation, accompanied by anhidrosis (the inability to sweat) and varying degrees of intellectual disability.
Meher Ayyazuddin, Nushra Maqsood, Saman Khan, null Muhammad Ali, Spenta Kakalia   +4 more
openaire   +1 more source

Congenital insensitivity to pain with anhidrosis

Journal of Pediatric Neurosciences, 2012
Dias, Edwin, Charki, Siddu
openaire   +4 more sources

Congenital insensitivity to pain

, 2017
Aneta Kecler-Pietrzyk, Rohit Sharma, Arlene Campos   +2 more
openaire   +2 more sources

Multidisciplinary Approach for Dental Management of Congenital Insensitivity to Pain with Anhidrosis: Clinical Case Report with 12-Month Follow-Up. [PDF]

Dent J (Basel)
Abdel-Bari ABAT, Fawzy M, Saad KA, Alhadainy HA.   +3 more
europepmc   +1 more source

Episodic disorders: channelopathies and beyond. [PDF]

, 2015
Ptáček, Louis J
core   +1 more source

Raising awareness through a case of recurrent fractures in a child with congenital insensitivity to pain and anhidrosis in Saudi Arabia. [PDF]

Ewha Med J
Aldosari A, Almokhtar A, Bukhary H, Sharaf R, Alhomayani K.   +4 more
europepmc   +1 more source

Orthopaedic manifestations of congenital insensitivity to pain [PDF]

Journal of the Royal Society of Medicine, 2001
S, Karmani, R, Shedden, C, De Sousa
openaire   +2 more sources

Oral Rehabilitation in Patient With Hereditary Sensory and Autonomic Neuropathy (HSAN) Type V: Clinical Report. [PDF]

Case Rep Dent
Lala S, Almustafa A.
europepmc   +1 more source

Congenital Insensitivity to Pain Syndrome With Hidrosis in a 17-Year-Old Female. [PDF]

Cureus
Paul RM, Parnell AM, Corrier GE, Jeffery M.   +3 more
europepmc   +1 more source