Prenatal encephalopathies of unknown origin. Our 19 years experience. To what extent must genetic and biochemical studies be carried out?
نویسندگان
چکیده
منابع مشابه
Prenatal encephalopathies of unknown origin. Our 19-years experience. To what extent must genetic and biochemical studies be carried out?
INTRODUCTION We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children seen by paediatric neurologists. They can be of disruptive origin (due to vascular problems, drugs, toxins or congenital infections), and genetically determined. We include cases of autism spectrum disorder and mental retarda...
متن کاملPrenatal encephalopathies of unknown origin . Our 19 - years experience . To what extent must genetic and biochemical studies be carried out ? ,
a Sección Neuropediatría, Hospital Universitario Miguel Servet, Zaragoza, Spain b Grupo de Investigación Neurometabólico Pediátrico, Instituto Aragonés Ciencias de la Salud, Zaragoza, Spain c Representante institucional del Gobierno de Aragón en la Estrategia de enfermedades raras del Ministerio de Sanidad y Política Social, Madrid, Spain d Sección Metabolismo, Hospital Universitario Miguel Ser...
متن کاملeighteen years of experience in biochemical analysis and prenatal diagnosis of krabbe disease
krabbe disease (kd) is a rare autosomal recessive neurodegenerative disorder characterized by severe myelin loss and the presence of globoid bodies in the white matter. the gene for kd (galc) is located on chromosome 14q24.3-q32.1. the disease results from a marked deficiency of the lysosomal enzyme b-galactocereberoside. the symptoms of kd become evident during the first few months of life and...
متن کامل50 years of hormonal contraception—time to find out, what it does to our brain
Hormonal contraceptives are on the market for more than 50 years and used by 100 million women worldwide. However, while endogenous steroids have been convincingly associated with change in brain structure, function and cognitive performance, the effects of synthetic steroids contained in hormonal contraceptives on brain and cognition have barely been investigated. In this article we summarize ...
متن کاملthe innovation of a statistical model to estimate dependable rainfall (dr) and develop it for determination and classification of drought and wet years of iran
آب حاصل از بارش منبع تأمین نیازهای بی شمار جانداران به ویژه انسان است و هرگونه کاهش در کم و کیف آن مستقیماً حیات موجودات زنده را تحت تأثیر منفی قرار می دهد. نوسان سال به سال بارش از ویژگی های اساسی و بسیار مهم بارش های سالانه ایران محسوب می شود که آثار زیان بار آن در تمام عرصه های اقتصادی، اجتماعی و حتی سیاسی- امنیتی به نحوی منعکس می شود. چون میزان آب ناشی از بارش یکی از مولفه های اصلی برنامه ...
15 صفحه اولذخیره 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: Neurología (English Edition)
سال: 2011
ISSN: 2173-5808
DOI: 10.1016/j.nrleng.2011.01.006