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Metabolic diseases[electronic resource] :foundations of clinical management, genetics, and pathology /

Record Type:	Electronic resources : Monograph/item
[NT 15000414]:	616.39
Title/Author:	Metabolic diseases : foundations of clinical management, genetics, and pathology // Enid Gilbert-Barness, Lewis A. Barness, Philip M. Farrell
other author:	Gilbert-Barness, Enid,
Published:	Amsterdam : : IOS Press,, 2017
Description:	1 online resource (xvii, 941 p.)
Subject:	Metabolism - Handbooks, manuals, etc. - Disorders
Subject:	Metabolic Diseases
ISBN:	9781614997184 (ebk.)
ISBN:	9781614997177 (hbk.)
[NT 15000227]:	Includes bibliographical references and index
[NT 15000228]:	Approach of diagnosis to metabolic diseeases / E. Gilbert-Barness and P.M. Farrell -- Prenatal diagnosis and newborn screening / L.P. Shulman and P.M. Farrell -- Disorders of amino acid metabolism / C. Ficicioglu -- Disorders of branched chain amino acid metabolism / I. Manoli and C.P. Venditti -- Defects of the urea cycle / U. Lichter-Konecki -- Fatty acid -oxidation defects / C.O. Harding -- Mitochondrial myopathies and disorders / L.A. Barness and K. Wong -- Glycogen storage diseases / M.A. Chen and D.A. Weinstein -- Mucopolysaccharidoses / J. Spranger -- Oligosaccharidoses and allied disorders / J. Spranger -- Disorders of sterol biosynthesis / L.V. Furtado, R.I. Kelley and J.M. Opitz -- Lysosomal storage diseases / C.R. Ferreira and W.A. Gahl -- Disorders if nucleotide metabolism / W.L. Nyham and T. Friedmann -- Disorders of metal metabolism / C.R. Ferreira and W.A. Gahl -- Neuronal ceroid-lipofuscinoses / D. Rakheja and M.J. Bennett -- Cystic fibrosis / B. Schnapf and P.M. Farrell -- The porphyrias / E.W. Gou, J.D. Phillips and K.E. Anderson -- Inherited intrahepatic chloestatic disorders and disorders of bilirubin metabolism / P. Russo -- Genetic and metabolic disorders of the endocrine system / A.W. Root -- Metablic cardiomyopathies / H.L. Bartlett and J. Carter Ralphe -- Molecular disorders of red blood cells, platelets, and coagualation system / J.L.R. Mayer and A.W. Root -- Genetic disorders of the renal tubule / A.W. Root -- Genetic disorders of calcium, phosphorus, and bone homeostasis / A.W. Root -- Peroxisome biogenesis disorders / C. Argyriou, M.D. D'Agostino and N. Braverman -- Neuromuscular disorders / K. Wong -- Gene therapy for metabolic diseases / R.J. Chandler and C.P. Venditti
Online resource:	http://ebooks.windeal.com.tw/ios/cover.asp?isbn=9781614997177

Metabolic diseases[electronic resource] :foundations of clinical management, genetics, and pathology /
Metabolic diseasesfoundations of clinical management, genetics, and pathology /[electronic resource] :Enid Gilbert-Barness, Lewis A. Barness, Philip M. Farrell - 2nd ed. - Amsterdam :IOS Press,2017 - 1 online resource (xvii, 941 p.)

Includes bibliographical references and index

Approach of diagnosis to metabolic diseeases / E. Gilbert-Barness and P.M. Farrell -- Prenatal diagnosis and newborn screening / L.P. Shulman and P.M. Farrell -- Disorders of amino acid metabolism / C. Ficicioglu -- Disorders of branched chain amino acid metabolism / I. Manoli and C.P. Venditti -- Defects of the urea cycle / U. Lichter-Konecki -- Fatty acid -oxidation defects / C.O. Harding -- Mitochondrial myopathies and disorders / L.A. Barness and K. Wong -- Glycogen storage diseases / M.A. Chen and D.A. Weinstein -- Mucopolysaccharidoses / J. Spranger -- Oligosaccharidoses and allied disorders / J. Spranger -- Disorders of sterol biosynthesis / L.V. Furtado, R.I. Kelley and J.M. Opitz -- Lysosomal storage diseases / C.R. Ferreira and W.A. Gahl -- Disorders if nucleotide metabolism / W.L. Nyham and T. Friedmann -- Disorders of metal metabolism / C.R. Ferreira and W.A. Gahl -- Neuronal ceroid-lipofuscinoses / D. Rakheja and M.J. Bennett -- Cystic fibrosis / B. Schnapf and P.M. Farrell -- The porphyrias / E.W. Gou, J.D. Phillips and K.E. Anderson -- Inherited intrahepatic chloestatic disorders and disorders of bilirubin metabolism / P. Russo -- Genetic and metabolic disorders of the endocrine system / A.W. Root -- Metablic cardiomyopathies / H.L. Bartlett and J. Carter Ralphe -- Molecular disorders of red blood cells, platelets, and coagualation system / J.L.R. Mayer and A.W. Root -- Genetic disorders of the renal tubule / A.W. Root -- Genetic disorders of calcium, phosphorus, and bone homeostasis / A.W. Root -- Peroxisome biogenesis disorders / C. Argyriou, M.D. D'Agostino and N. Braverman -- Neuromuscular disorders / K. Wong -- Gene therapy for metabolic diseases / R.J. Chandler and C.P. Venditti

ISBN: 9781614997184 (ebk.) Subjects--Topical Terms:

439292
Metabolism
--Disorders--Handbooks, manuals, etc.

LC Class. No.: RC627.54 / .M48 2017

Dewey Class. No.: 616.39

Metabolic diseases[electronic resource] :foundations of clinical management, genetics, and pathology /
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020 $a 9781614997177 (hbk.)
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