Conservatively managed extradural haematoma in a child with progeria
Interdisciplinary Neurosurgery, 2019 Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterised by premature ageing. We report a case of a 13-year-old girl with HGPS who presented with an extradural haematoma following head injury.
Kapil Mohan Rajwani +4 more
doaj
Generating health technology assessment evidence for rare diseases [PDF]
, 2014 Objectives: Rare diseases are often heterogeneous in their progression and response to treatment, with only a small population for study. This provides challenges for evidence generation to support HTA, so novel research methods are required.
Facey, Karen +6 more
core +1 more source
Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis
Australasian Journal of Dermatology, Volume 66, Issue 3, Page e109-e119, May 2025.ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley +1 more source
Muscle-derived stem/progenitor cell dysfunction in Zmpste24-deficient progeroid mice limits muscle regeneration [PDF]
, 2013 Introduction. Loss of adult stem cell function during aging contributes to impaired tissue regeneration. Here, we tested the aging-related decline in regeneration potential of adult stem cells residing in the skeletal muscle. Methods.
Ahani, B +5 more
core +3 more sources
A novel b(1-4)galactosyltransferase gene silent mutation (594C>T) associated with Hutchinson-Gilford progeria [PDF]
, 2001 M.E. O Brien, Anthony S. Weiss
openalex +2 more sources
Recent Advances in Animal and Human Pluripotent Stem Cell Modeling of Cardiac Laminopathy [PDF]
, 2016 published_or_final_versio
Jiang, Y +7 more
core +1 more source
Journal of Lipid Research, 2009 Hutchinson-Gilford progeria syndrome (HGPS) is caused by the synthesis of a truncated prelamin A, commonly called progerin, that contains a carboxyl-terminal farnesyl lipid anchor.
Brandon S.J. Davies +10 more
doaj
Structure and stability of the lamin A tail domain and HGPS mutant [PDF]
, 2011 Hutchinson–Gilford progeria syndrome (HGPS) is a premature aging syndrome caused by the expression and accumulation of a mutant form of lamin A, Δ50 lamin A.
Buehler, Markus J +3 more
core +1 more source
Ocular manifestations in the Hutchinson-Gilford progeria syndrome
Indian Journal of Ophthalmology, 2011 The Hutchinson-Gilford progeria (HGP) syndrome is an extremely rare genetic condition characterized by an appearance of accelerated aging in children. The word progeria is derived from the Greek word progeros meaning ′prematurely old′. It is caused by de
Shivcharan L Chandravanshi +3 more
doaj +1 more source
Validation of modulated proteins due to progerin over-expression in Progeria Syndrome (HGPS) cell lines [PDF]
, 2015 El síndrome de la progeria de Hutchinson-Gilford (HGPS), una enfermedad de envejecimiento prematuro, se caracteriza por la sobreexpresión de una isoforma mutada de la lamina A, la progerina o lamina AΔ50.
Palla Pérez, Sandra
core +1 more source