Pediatric endocrinology and inborn errors of metabolism
editors: Kyriakie Sarafoglou, Georg F. Hoffmann, Karl S. Roth ; consulting editors: Howard Courtney, Maria Teresa Gonzalez-Bolaños ; [contributors: S. Faisal Ahmed, Johannes Häberle, Beat Thöny [und 137 weitere]]
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| 019 | |a Division of Metabolism, University Children's Hospital Zürich Eleonore foundation (KISPI): Johannes Häberle, MD (Assistent Professor, Senior Lecturer) , Beat Thöny, PhD (Professor of Clinical biochemistry) | ||
| 020 | |a 0-07-177314-2 | ||
| 020 | |a 978-0-07-177314-0 | ||
| 035 | |a (NEBIS)011078930 | ||
| 035 | |a (RERO)R008834563 | ||
| 035 | |a (VAUD)991021218388202852 | ||
| 035 | |a (OCoLC)907445744 | ||
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| 245 | 0 | 0 | |a Pediatric endocrinology and inborn errors of metabolism |b editors: Kyriakie Sarafoglou, Georg F. Hoffmann, Karl S. Roth ; consulting editors: Howard Courtney, Maria Teresa Gonzalez-Bolaños ; [contributors: S. Faisal Ahmed, Johannes Häberle, Beat Thöny [und 137 weitere]] |
| 250 | |a Second edition | ||
| 264 | 1 | |a New York |b McGraw-Hill Education |c [2017] | |
| 264 | 4 | |c © 2017 | |
| 300 | |a xviii, 1276 Seiten |b Illustrationen | ||
| 504 | |a Includes bibliographical references and index | ||
| 505 | 0 | |a [Contents] 1 Newborn Screening. - 2 Emergency Assessment and Management of Suspected Inborn Errors of Metabolism and Endocrine Disorders. - 3 Introduction to Molecular Testing Including Exome/Genome Sequencing. - 4 Hyperinsulinism. - 5 Glycogen Storage Diseases. - 6 The Galactosemias. - 7 Disorders of Fructose Metabolism. - 8 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle. - 9 Mitochondrial Fatty Acid Oxidation Defects. - 10 Ketone Synthesis and Utilization Defects. - 11 Oxidative Phosphorylation Diseases. - 12 Creatine Deficiency Syndromes. - 13 Urea Cycle Disorders. - 14 Organic Acidurias. - 15 Phenylketonuria. - 16 Hyperphenylalaninemias: Disorders of Tetrahydrobiopterin Metabolism. - 17 Tyrosinemias and Other Disorders of Tyrosine Degradation. - 18 Disorders of Transsulfuration. - 19 Inborn Errors of Folate and Cobalamin Transport and Metabolism. - 20 Diabetes Mellitus. - 21 Child and Adolescent Obesity. - 22 Lipids and Lipoprotein Abnormalities. - 23 Defects of Cholesterol Biosynthesis. - 24 Inborn Errors of Peroxisome Biogenesis and Function. - 25 Genetic Defects in Synthesis and Transport of Bile Acids. - 26 The Porphyrias. - 27 Disorders of the Thyroid Gland. - 28 Adrenal Insufficiency. - 29 Congenital Adrenal Hyperplasia. - 30 Cushing Syndrome. - 31 Disorders of Growth. - 32 Turner Syndrome. - 33 Developmental Disorders of the Anterior Pituitary. - 34 Precocious Puberty. - 35 Variants of Pubertal Progression. - 36 Disorders of Sex Development. - 37 Female Hypogonadism. - 38 Male Hypogonadism. - 39 Vaginal Bleeding and Menstrual Disorders. - 40 Disorders of Calcium, Phosphate, and Bone Metabolism. - 41 Disorders of Mineral Metabolism (Iron, Copper, Zinc, and Molybdenum). - 42 Disorders of Water Metabolism. - 43 Disorders of Membrane Transport. - 44 Congenital Disorders of Glycosylation. - 45 Lysosomal Disorders. - 46 Purine and Pyrimidine Metabolism. - 47 Neurotransmitter Disorders. - 48 Endocrine-Related Cancer. - 49 Endocrine Problems in Pediatric Cancer Survivors. - 50 Laboratory Investigations of Inborn Errors of Metabolism. - 51 Endocrine Testing. - 52 Diagnostic Imaging | |
| 650 | 0 | |a Metabolism, Inborn errors of | |
| 650 | 0 | |a Pediatric endocrinology | |
| 650 | 2 | |a Child |0 (DNLM)D002648 | |
| 650 | 2 | |a Endocrine System Diseases |0 (DNLM)D004700 | |
| 650 | 2 | |a Metabolism, Inborn Errors |0 (DNLM)D008661 | |
| 650 | 7 | |a Angeborene Krankheit |2 idszbz | |
| 650 | 7 | |a Endokrinologie |2 idszbz | |
| 650 | 7 | |a Endokrinopathie |2 idszbz | |
| 650 | 7 | |a Kind |2 idszbz | |
| 650 | 7 | |a Stoffwechselkrankheit |2 idszbz | |
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| 650 | 7 | |a Stoffwechselstörung |0 (DE-588)4057701-6 |2 gnd | |
| 650 | 0 | |a Newborn infants |x Diseases |x Diagnosis | |
| 650 | 0 | |a Newborn infants |x Diseases |x Treatment | |
| 650 | 2 | |a Child | |
| 650 | 2 | |a Endocrine System Diseases | |
| 650 | 2 | |a Infant | |
| 650 | 2 | |a Metabolism, Inborn Errors | |
| 655 | 7 | |a Handbuch |2 idszbz | |
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| 700 | 1 | |a Sarafoglou |D Kyriakie |e Herausgeber |4 edt | |
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| 949 | |B NEBIS |F UKISP |b UKISP |c ULKIS |j K WS 330-13 Ed.2 | ||
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| 950 | |B NEBIS |P 700 |E 1- |a Sarafoglou |D Kyriakie |e Herausgeber |4 edt | ||
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