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...
متن کاملGene Therapy for Erythroid Metabolic Inherited Diseases
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 کاملAnimal Models of Inherited Metabolic Diseases
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...
متن کاملInherited metabolic diseases in the sudden infant death syndrome.
All sudden, unexpected infant deaths presenting during a two year period within a defined geographical area in Avon and north Somerset were investigated for inherited metabolic disease. Of 95 deaths, 88 were classified as cases of sudden infant death syndrome (SIDS). In addition to the normal postmortem investigations, samples of cerebrospinal fluid, urine, vitreous humour, and skin were collec...
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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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1988
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.63.7_spec_no.765-a