progeria/seizures

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NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

3 matokeo

Progressive intracranial vascular disease with strokes and seizures in a boy with progeria.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Progeria, a rare genetic disorder, is characterized by severe growth failure, premature aging, and very early atherosclerosis with coronary artery and cerebrovascular disease. There has been no detailed description of progressive cerebrovascular changes in progeria or any attempted neurologic

Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment.

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Ingia / Ingia

OBJECTIVE The objective of this study was to retrospectively evaluate neurologic status pre- and posttreatment with the oral farnesyltransferase inhibitor lonafarnib in children with Hutchinson-Gilford progeria syndrome (HGPS), a rare, fatal disorder of segmental premature aging that results in

Increased transport of acetyl-CoA into the endoplasmic reticulum causes a progeria-like phenotype.

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Ingia / Ingia

The membrane transporter AT-1/SLC33A1 translocates cytosolic acetyl-CoA into the lumen of the endoplasmic reticulum (ER), participating in quality control mechanisms within the secretory pathway. Mutations and duplication events in AT-1/SLC33A1 are highly pleiotropic and have been linked to diseases

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Herbal & Natural Medicine

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