Abstract
Medical genetics has come of age as a unique specialty in medicine. All practitioners of medicine, regardless of their individual speciality encounter numerous patients with genetic disorders or conditions strongly influenced by hereditary factors. Clinicians are expected to be aware of aetiology, pathogenesis, natural history and prognosis of inherited diseases, as well as current approaches to their treatment and prevention. Unlike most other medical specialties, which are limited to a body system, age range or diagnostic modality, medical genetics has no such limits. It involves all bodily systems and utilizes all manner of diagnostic and therapeutic modalities. In addition, the recent spectacular advances in cellular, biochemical and molecular genetics are rapidly integrated into clinical applicability, and thus provide unique diagnostic tools. The modern management of genetically determined metabolic disorders is an excellent example where advances in modern genetics are being applied with measurable success.
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Apte, B.N. (2004). Management of Inherited Metabolic Diseases in India. In: Kumar, D. (eds) Genetic Disorders of the Indian Subcontinent. Springer, Dordrecht. https://doi.org/10.1007/978-1-4020-2231-9_11
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DOI: https://doi.org/10.1007/978-1-4020-2231-9_11
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