منابع مشابه
Congenital protein hypoglycosylation diseases
Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first defect on N-linked glycosylation in the 1980s, there are over 40 different congenital protein hypog...
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Les auteurs passent en revu les perturbations du metabolisme general et particulier et en tirent les consequences d'ordre pathologique et therapeutique.
متن کاملAdolescents with congenital heart diseases.
The remarkable improvement in pediatric cardiosurgery observed over the last few decades has meant that many patients with congenital heart diseases have entered adult life. The growing population of adults with congenital heart defects (ACHD) requires specialized treatment. The team of specialists should consist of cardiologists experienced in congenital heart diseases, cardiosurgeons, obstetr...
متن کاملCongenital heart diseases and anaesthesia
Patients with congenital heart diseases (CHDs) are at increased risk of developing complications during anaesthesia. Improvements in medical and surgical management in recent decades have resulted in significantly more children with CHD surviving to adulthood. The aim of this article is to focus on broad classification of CHD and to provide an updated review on the current perioperative anaesth...
متن کاملMetabolic Diseases in Children
(Reading of Chairman Najjar’s paper.) Chairman Mallar.’ I have indicated to you that the alpha cells of the pancreas excrete the hyperglycemic factor. The practical value of this finding can only be measured by its possible hearing on the understanding and treatment of aberrations of carbohydrate metabolism. Dr. Irvine McQuarnie has lately found cases of hypoglycemia that showed absence of thes...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1986
ISSN: 1468-6244
DOI: 10.1136/jmg.23.4.381