Read e-book online A Clinical Guide to Inherited Metabolic Diseases (2nd PDF

By Joe T. R. Clarke

ISBN-10: 0521890764

ISBN-13: 9780521890762

This clinically equipped, straight forward, instruction manual is meant to aid basic physicians and scientific experts in education with the 1st severe steps in scientific analysis: the right way to be sure that this is often an inherited metabolic disorder, and the place to head from right here to set up a analysis. it's a well-illustrated textual content that's equipped round the scientific presentation of the illness. Biochemical and metabolic ideas are offered in a clinically suitable context. It services to counterpoint extra conventional textbooks that are prepared biochemically. The booklet serves as an front to the self-discipline, to aid non-expert physicians and complicated clinical trainees to beat the intimidation they're acquainted with experiencing whilst facing metabolic difficulties. This re-creation has been elevated to incorporate considerably extra on mitochondrial ailments, new imaging concepts, and new thoughts for screening and prognosis.

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Additional resources for A Clinical Guide to Inherited Metabolic Diseases (2nd Edition)

Sample text

One example is the loss of mobility arising from skeletal and joint deformities caused by spasticity. A previously ambulatory child with cerebral palsy may stop walking as a result of shortening of the Achilles tendons. The resulting discrepancy between gross motor and other developmental spheres is a clue to the mechanism of the regression in these patients. Similarly, conditions in which hepatic involvement dominates the clinical presentation are considered in Chapter 4, and conditions typically associated with unusual physical features of dysmorphism are discussed in Chapter 6.

Thirdly, the psychomotor retardation is usually progressive. There is generally a history of a period of apparently normal development, followed by loss of developmental milestones or progressive deterioration in school performance. Initially, the progression may be subtle, amounting to an apparent arrest of development during which the gap between the developmental level of the patient and normal children of the same age grows wider with time, without any obvious loss of developmental milestones.

Human Genetics. A Problem-Based Approach, 2nd edn. Malden, MA: Blackwell Science Inc. L. T. (1998). Atlas of Metabolic Diseases. London: Chapman & Hall Medical. , Ogier, H. & Charpentier, C. (1996). Clinical approach to inherited metabolic diseases. In Inborn Metabolic Diseases: Diagnosis and Treatment, 2nd edn. ed. J. M. Saudubray & G. Van den Berghe, pp. 3–39. Berlin: Springer-Verlag. S. & Valle, D. ) (1995). The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill.

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A Clinical Guide to Inherited Metabolic Diseases (2nd Edition) by Joe T. R. Clarke

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