LEADER 04355nam 22006015 450 001 9910150449003321 005 20251116173310.0 010 $a3-662-49771-9 024 7 $a10.1007/978-3-662-49771-5 035 $a(CKB)3710000000943205 035 $a(DE-He213)978-3-662-49771-5 035 $a(MiAaPQ)EBC4740937 035 $a(PPN)197133428 035 $a(EXLCZ)993710000000943205 100 $a20161110d2016 u| 0 101 0 $aeng 135 $aurnn|008mamaa 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aInborn Metabolic Diseases $eDiagnosis and Treatment /$fedited by Jean-Marie Saudubray, Matthias R. Baumgartner, John H. Walter 205 $a6th ed. 2016. 210 1$aBerlin, Heidelberg :$cSpringer Berlin Heidelberg :$cImprint: Springer,$d2016. 215 $a1 online resource (XXXI, 658 p.) 300 $aIncludes index. 300 $a"With 81 figures." 311 08$a3-662-49769-7 327 $aSection I Diagnosis and Treatment: General Principles -- Section II Disorders of Carbohydrate Metabolism -- Section III Disorders of Mitochondrial Energy Metabolism -- Section IV Disorders of Amino Acid Metabolism and Transport -- Section V Vitamin-Responsive Disorders -- Section VI Neurotransmitter and Small Peptide Disorders -- Section VII Disorders of Lipid and Bile Acid Metabolism -- Section VIII Disorders of Nucleic and Heme Metabolism -- 35 Disorders of Purine and Pyrimidine Metabolism -- 36 Disorders of Haem Biosynthesis -- Section IX Disorders of Metal Transport -- Section X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems -- Section XI Appendices. 330 $aThis work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications. Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles. Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included. The Editors Jean-Marie Saudubray, M.D., is Emeritus Professor of Pediatrics and Expert Metabolic Consultant at the adult neuro-metabolic unit in the Hôpital La Pitié Salpétrière from the Université Pierre et Marie Curie, Paris. Matthias R. Baumgartner, M.D., Professor of Paediatrics and Inherited Metabolic Medicine, University of Zurich, is Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children?s Hospital, Zurich. John Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Manchester Academic Health Science Centre, Willink Unit, Manchester. 606 $aPediatrics 606 $aHuman genetics 606 $aEndocrinology 606 $aNeurology 606 $aPediatrics$3https://scigraph.springernature.com/ontologies/product-market-codes/H49006 606 $aHuman Genetics$3https://scigraph.springernature.com/ontologies/product-market-codes/B12008 606 $aEndocrinology$3https://scigraph.springernature.com/ontologies/product-market-codes/H33053 606 $aNeurology$3https://scigraph.springernature.com/ontologies/product-market-codes/H36001 615 0$aPediatrics. 615 0$aHuman genetics. 615 0$aEndocrinology. 615 0$aNeurology. 615 14$aPediatrics. 615 24$aHuman Genetics. 615 24$aEndocrinology. 615 24$aNeurology. 676 $a618.92 702 $aSaudubray$b Jean-Marie$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aBaumgartner$b Matthias R.$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aWalter$b John H.$4edt$4http://id.loc.gov/vocabulary/relators/edt 906 $aBOOK 912 $a9910150449003321 996 $aInborn Metabolic Diseases$92889872 997 $aUNINA