Living with Progeria
نویسندگان
چکیده
منابع مشابه
Living with Progeria
Mission The Progeria Family Circle is a parents’ organisation and network that supports European Progeria children and their families in several ways. The objectives are fourfold: Meetings First, the foundation organises annual meetings for all European children and their families. These are important highlights, because of the rarity of the disease children never see other patients. Also for t...
متن کاملProgeria with post-streptococcal glomerulonephritis
يمسج للاتعا نوسينشتاه ايريجورب دروفليج ةمزلاتم دعت يفحق بسانت مدعب فصتي .دللجا ةشاشهل مزلام رطيسم .رويطلا هطقتلا روهظو ،كفلا رغصو ،يننستلا رخأتو ،يهجو ينج يف افون يد ينج ةرفط وه يسيئرلا يثارولا بيعلا نأ امك 16 رمعلا نم غلبي ضيرم ةلاح ريرقتلا اذه فصي .LMNA يذلاو نوسينشتاه ايريجورب دروفليج ضارعأ روهظ عم ماع ضارعأ ترهظ امك .ريبك لكشب تايبدلأا يف ةلالحا فصو تم ةفلتخلما تاصيخشتلا ةشقانم تم امك .ضيرل...
متن کاملProgeria Syndrome Mechanisms of Premature Vascular Aging in Children With Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford progeria syndrome is a rare, segmental premature aging syndrome of accelerated atherosclerosis and early death from myocardial infarction or stroke. This study sought to establish comprehensive characterization of the fatal vasculopathy in Hutchinson-Gilford progeria syndrome and its relevance to normal aging. We performed cardiovascular assessments at a single clinical site ...
متن کاملHutchinson-Gilford Progeria Syndrome
The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellular membrane inducing premature aging of all cells. In the present review aspects related to the pathophysiology and clinical characteristics of this syndrome are shown.
متن کاملHutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome (HGPS) is a lethal congenital disorder, characterised by premature appearance of accelerated ageing in children. Although HGPS was first descri‐ bed by Jonathan Hutchinson [1] and then by Hastings Gilford [2] more than a century ago, it was not until 2003 that the genetic basis of HGPS was uncovered [3, 4]. Approximately 90% of HGPS patients have an identica...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2010
ISSN: 1750-1172
DOI: 10.1186/1750-1172-5-s1-o9