Value of predictive bioinformatics in inherited metabolic diseases
نویسندگان
چکیده
منابع مشابه
The Inherited Metabolic Diseases
I am usually highly resistant to exhortations from reviewers that a particular book is 'essential reading'. But now and again one appears which should command our attention and I urge all paediatricians to read Penelope Leach's new book. Her case is that 'post-industrial western societies', such as the UK, ignore or override the special needs of children to such an extent that they miss out and...
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ond chapter is a clinical dissertation on Cushing's syndrome, combining basic and clinical science in a succinct and comprehensive marriage. Other outstanding articles within this book are the discussions of inhibin in Debeljuk and Rettori's chapter on gonadal hormones and gonadotropin secretion and the opioid regulation of pituitary secretion by Frantz et al., with a lucid explanation of the r...
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Gene therapy is becoming a powerful tool to treat genetic diseases. Clinical trials performed during last two decades have demonstrated its usefulness in the treatment of several genetic diseases [1] but also the need to improve vector delivery, expression and safety [2]. New vectors should reduce genotoxicity (genomic alteration due to vector integration), immuno‐ genicity (immune response to ...
متن کاملEndocrine Dysfunctions in Patients with Inherited Metabolic Diseases
OBJECTIVE Inherited metabolic diseases (IMDs) can affect many organ systems, including the endocrine system. There are limited data regarding endocrine dysfunctions related to IMDs in adults, however, no data exist in pediatric patients with IMDs. The aim of this study was to investigate endocrine dysfunctions in patients with IMDs by assessing their demographic, clinical, and laboratory data. ...
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Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects of complex molecules. They can be associated with endocrine manifestations, which may be complications from a previously diagnosed IEM of childhood onset. More rarely, endocrinopathies ca...
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ژورنال
عنوان ژورنال: World Journal of Medical Genetics
سال: 2015
ISSN: 2220-3184
DOI: 10.5496/wjmg.v5.i3.46