Zobrazeno 1 - 10
of 368
pro vyhledávání: '"HSAN"'
Autor:
Vaughan G. Macefield, Lyndon J. Smith, Lucy Norcliffe‐Kaufmann, Jose‐Alberto Palma, Horacio Kaufmann
Publikováno v:
Experimental Physiology, Vol 109, Iss 1, Pp 27-34 (2024)
Abstract Hereditary sensory and autonomic neuropathy type III (HSAN III), also known as familial dysautonomia or Riley–Day syndrome, results from an autosomal recessive genetic mutation that causes a selective loss of specific sensory neurones, lea
Externí odkaz:
https://doaj.org/article/3375a4a16cd24be5a407d03b8f674a64
Publikováno v:
Medical Journal of Dr. D.Y. Patil Vidyapeeth, Vol 16, Iss 7, Pp 136-139 (2023)
A 12-year-old male, who had a history of trauma in his right eye at 2 years of age, presented to the clinic with diminution of vision and whitish discoloration in his right eye. Detailed history and clinical examination confirmed findings of congenit
Externí odkaz:
https://doaj.org/article/daa3da282de14a4797cd7462b2f04732
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background:PRDM12 is a newly discovered gene responsible for congenital insensitivity to pain (CIP). Its clinical manifestations are various and not widely known.Methods: The clinical data of two infants diagnosed with CIP associated with PRDM12 muta
Externí odkaz:
https://doaj.org/article/1789fb9c14724dbdbbb2df3dadc178a3
Publikováno v:
Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2629-2632 (2022)
Externí odkaz:
https://doaj.org/article/8ad5e4fdc7b24725a82f7e97285038f1
Akademický článek
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Pregnancy in hereditary sensory and autonomic neuropathy type V: A case report and literature review
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 1, Pp 115-117 (2022)
Objective: Hereditary sensory and autonomic neuropathies (HSANs) are a clinical heterogenous group of inherited neuropathies featuring prominent sensory and autonomic involvement. We report on the management of pregnancy and delivery in a woman with
Externí odkaz:
https://doaj.org/article/dcf4854ba5474b658ae50641f99795a3
Publikováno v:
Salud Uninorte, Vol 36, Iss 1, Pp 178-195 (2020)
Introducción: La insensibilidad congénita al dolor con anhidrosis (HSAN IV o CIPA) es una enfermedad rara con sintomatologia multisistémica, que impacta el funcionamiento cognitivo, y afecta negativamente la calidad de vida los pacientes y sus fam
Externí odkaz:
https://doaj.org/article/5a5d0aa67b624c3f9b9949dcb5356a1e
Autor:
Sonia Covaceuszach, Doriano Lamba
Publikováno v:
Biology, Vol 12, Iss 3, p 364 (2023)
Nerve Growth Factor (NGF), the prototype of the neurotrophin family, stimulates morphological differentiation and regulates neuronal gene expression by binding to TrkA and p75NTR receptors. It plays a critical role in maintaining the function and phe
Externí odkaz:
https://doaj.org/article/3a5fbe84d3b84f96b00f030fa02c0808
Akademický článek
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Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background Hereditary sensory and autonomic neuropathy (HSAN) type II is a group of extremely rare autosomal recessive neurological disorders with heterogeneous clinical and genetic characteristics. Methods We performed high-depth next-gener
Externí odkaz:
https://doaj.org/article/ea779dcf649446598b1b3ab0b39f9daa