Genetic and Metabolic Disease in Pediatrics

Butterworths International Medical Reviews

Nonfiction, Health & Well Being, Medical, Specialties, Gynecology & Obstetrics
Cover of the book Genetic and Metabolic Disease in Pediatrics by , Elsevier Science
View on Amazon View on AbeBooks View on Kobo View on B.Depository View on eBay View on Walmart
Author: ISBN: 9781483161013
Publisher: Elsevier Science Publication: April 24, 2014
Imprint: Butterworth-Heinemann Language: English
Author:
ISBN: 9781483161013
Publisher: Elsevier Science
Publication: April 24, 2014
Imprint: Butterworth-Heinemann
Language: English

Genetic and Metabolic Disease in Pediatrics is a compendium of papers that discusses the problems of inborn diseases in terms of homeostasis. One paper traces "backward" from the disease phenotype to discover and investigate the gene, as well as moves "forward" from mutation in DNA to discover phenotypes or proteins connected with the disease. Specific genes are assigned to particular places (loci) on chromosomes that can manifest the presence or type of disease. Another paper examines a classical disease—osteogenesis imperfecta—pointing out that the aberrant collagen of osteogenesis imperfecta reflects mutation at chromosomes 7 and 17. Another paper shows that in osteogenesis imperfecta, Mendelian phenotypes lead to genes and their products as being involved in critical aspects of protein traffic in human cells. Several papers examine the inborn errors of metabolism covering the lacticacidemias, urea synthesis, the hyperphenylalaninaemias, and the hyperlipidaemias. Other papers investigate the effects of metabolic dishomeostasis caused by variant maternal genotypes on fetal development, the "androgen pathway, its known Mendelian variants

View on Amazon View on AbeBooks View on Kobo View on B.Depository View on eBay View on Walmart

Genetic and Metabolic Disease in Pediatrics is a compendium of papers that discusses the problems of inborn diseases in terms of homeostasis. One paper traces "backward" from the disease phenotype to discover and investigate the gene, as well as moves "forward" from mutation in DNA to discover phenotypes or proteins connected with the disease. Specific genes are assigned to particular places (loci) on chromosomes that can manifest the presence or type of disease. Another paper examines a classical disease—osteogenesis imperfecta—pointing out that the aberrant collagen of osteogenesis imperfecta reflects mutation at chromosomes 7 and 17. Another paper shows that in osteogenesis imperfecta, Mendelian phenotypes lead to genes and their products as being involved in critical aspects of protein traffic in human cells. Several papers examine the inborn errors of metabolism covering the lacticacidemias, urea synthesis, the hyperphenylalaninaemias, and the hyperlipidaemias. Other papers investigate the effects of metabolic dishomeostasis caused by variant maternal genotypes on fetal development, the "androgen pathway, its known Mendelian variants

More books from Elsevier Science

Cover of the book The Joy of Finite Mathematics by
Cover of the book Computers and Computations in the Neurosciences by
Cover of the book Obesity by
Cover of the book Perceptual and Cognitive Development by
Cover of the book Effective Interviewing and Interrogation Techniques by
Cover of the book Handbook of Adhesive Bonded Structural Repair by
Cover of the book Analytical Methods for Agricultural Contaminants by
Cover of the book Biology of the Lobster by
Cover of the book Aerodynamics for Engineering Students by
Cover of the book Advanced Cleaning Product Formulations, Vol. 5 by
Cover of the book Hearing Science and Hearing Disorders by
Cover of the book Hyperpolarized and Inert Gas MRI by
Cover of the book Facelifts for Special Libraries by
Cover of the book Natural Products and Drug Discovery by
Cover of the book Handbook of Models for Human Aging by
We use our own "cookies" and third party cookies to improve services and to see statistical information. By using this website, you agree to our Privacy Policy