Laboratory Guide to the Methods in Biochemical Genetics


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This item has been added to your basket View basket Checkout. This manual describes laboratory methodology for diagnosing inborn errors of metabolism. Each chapter is sufficiently detailed so as to be self-contained, thus enabling any individual to adopt the method in their own laboratory and obviating the need for additional methods of references. The book is unique in that it is the first of its kind to be published in the last 15 years, and individual chapters have been developed by experts in the field citing both established and 'cutting-edge' technology. Thus, it is sufficiently up-to-date to be applicable to the field of inborn errors of metabolism for all readers and those interested in laboratory diagnosis.

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Laboratory Guide to the Methods in Biochemical Genetics

Jonathan Slack. These disorders result in the accumulation or the deficiency of 1 or more amino acids in biological fluids, which leads to the clinical signs and symptoms of the particular amino acid disorder. The clinical presentation is dependent upon the specific amino acid disorder. In general, affected patients may experience failure to thrive, neurologic symptoms, digestive problems, dermatologic findings, and physical and cognitive delays. If not diagnosed and treated promptly, amino acid disorders can result in mental retardation and possibly death.

In addition, amino acid analysis may have clinical importance in the evaluation of several acquired conditions including endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances, renal failure, and burns. General elevations in urine amino acid levels, called aminoaciduria, can be seen in disorders with amino acid transport defects such as lysinuric protein intolerance and Hartnup disease, as well as in conditions with renal tubular dysfunction including Lowe syndrome and Dent disease.

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When no significant abnormalities are detected, a simple descriptive interpretation is provided. When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing and in vitro confirmatory studies enzyme assay, molecular analysis , name and phone number of key contacts who may provide these studies, and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.

Not all patients with homocystinuria and prolidase deficiency will be detected by this assay. Part 8 Amino Acids. New York, McGraw-Hill.

Oligosaccharides Adrian C. Sewell Sialic Acid Frans W.

Laboratory Guide to the Methods in Biochemical Genetics : Nenad Blau :

Verheijen Glycosphingolipids Ben J. Poorthuis, Johannes M.

Aerts Wamelink, Cornelis Jakobs Bile Acids Giorgio Federici Biogenic Amines Simon J. Heales Folates Nenad Blau, Thomas Opladen Kuilenburg, Arno Cruchten, Nico G. Abeling

Laboratory Guide to the Methods in Biochemical Genetics Laboratory Guide to the Methods in Biochemical Genetics
Laboratory Guide to the Methods in Biochemical Genetics Laboratory Guide to the Methods in Biochemical Genetics
Laboratory Guide to the Methods in Biochemical Genetics Laboratory Guide to the Methods in Biochemical Genetics
Laboratory Guide to the Methods in Biochemical Genetics Laboratory Guide to the Methods in Biochemical Genetics
Laboratory Guide to the Methods in Biochemical Genetics Laboratory Guide to the Methods in Biochemical Genetics
Laboratory Guide to the Methods in Biochemical Genetics Laboratory Guide to the Methods in Biochemical Genetics
Laboratory Guide to the Methods in Biochemical Genetics Laboratory Guide to the Methods in Biochemical Genetics
Laboratory Guide to the Methods in Biochemical Genetics Laboratory Guide to the Methods in Biochemical Genetics
Laboratory Guide to the Methods in Biochemical Genetics Laboratory Guide to the Methods in Biochemical Genetics

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