The Inherited Metabolic Diseases
نویسنده
چکیده
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 even suffer, the enthusiasm and commitment of parents is stifled and their effectiveness compromised while the long term social and economic well being of
منابع مشابه
Frequency of Medical Futility and its Costs in Deceased Neonates with a Probable Diagnosis of Inherited Metabolic Disorder in Children’s Medical Center, Iran
Background and purpose: Futile medical care is referred to any medical intervention or activity that bring no benefit to patients. The aim of this study was to evaluate the frequency of futile treatment and its cost in neonates with a probable diagnosis of inherited metabolic disorder. Materials and methods: In this cross-sectional study, hospitalization records of all admitted neonates in Chi...
متن کاملThe Effect of Amino Acid, Carbohydrate, and Lipid Metabolism Disorders on Eyes
Inherited metabolic disorders (IMDs) are a class of genetic disorders. Each metabolic disorder may have different forms with different age of onset, clinical manifestations, severity, and even type of inheritance. Ideally, a group of different specialists, including ophthalmologists, pediatricians, biochemists, and medical geneticists are needed for the final diagnosis and management of IMDs. B...
متن کاملRespiratory manifestations in patients with inherited metabolic diseases.
Growing evidence indicates that inherited metabolic diseases are increasingly being recognised. Life expectancy for many patients is progressively improving because new therapeutic strategies are available. Because most inherited metabolic diseases are systemic disorders, virtually all organs may be involved. Respiratory disease complicates the management of several inherited metabolic diseases...
متن کاملRare Diseases in the Slovak Republic Europlan National Conference the Reality of the Management in Patients with Rare Inborn Metabolic Diseases in Slovakia
Recently, from 6,000 to 8,000 rare diseases have been registered, of which over 1,000 are inherited metabolic diseases. In Slovakia, a nationwide newborn screening for phenylketonuria − an inherited metabolic disease that occurred frequently in our country − has been performed over the last 40 years. Special workplaces in Bratislava, Banská Bystrica and Košice were set up to provide optimal ava...
متن کامل'Inherited Metabolic Disease in Adults: A Clinical Guide'.
: Inherited Metabolic Disease in Adults: A Clinical Guide (Oxford Monographs on Medical Genetics) ISBN : #0199972133 | Date : 2016-08-16 Description : PDF-57425 | As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently...
متن کاملAnimal models of inherited metabolic diseases. Proceedings of the International Symposium on Animal Models of Inherited Metabolic Disease. Bethesda, Maryland. October 19-20, 1981.
Will reading habit influence your life? Many say yes. Reading animal models of inherited metabolic diseases proceedings of the international is a good habit; you can develop this habit to be such interesting way. Yeah, reading habit will not only make you have any favourite activity. It will be one of guidance of your life. When reading has become a habit, you will not make it as disturbing act...
متن کامل