cam a22 4 4500 528741101 CHVBK 20200622141651.0 180921s2017 xxu |||| 000 0 eng|d 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) 0-07-177314-2 978-0-07-177314-0 (NEBIS)011078930 (RERO)R008834563 (VAUD)991021218388202852 (OCoLC)907445744 (EXLNZ-41BCULAUSA_NETWORK)991023540919202851 YDXCP eng SzZuIDS NEBIS UZH-HBZ-N rda 2017 F-438 WS 330 s1me rero 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]] Second edition New York McGraw-Hill Education [2017] © 2017 xviii, 1276 Seiten Illustrationen Includes bibliographical references and index [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 Metabolism, Inborn errors of Pediatric endocrinology Child (DNLM)D002648 Endocrine System Diseases (DNLM)D004700 Metabolism, Inborn Errors (DNLM)D008661 Angeborene Krankheit idszbz Endokrinologie idszbz Endokrinopathie idszbz Kind idszbz Stoffwechselkrankheit idszbz Endokrinologie (DE-588)4014663-7 gnd Neurologie (DE-588)4041888-1 gnd Stoffwechselstörung (DE-588)4057701-6 gnd Newborn infants Diseases Diagnosis Newborn infants Diseases Treatment Child Endocrine System Diseases Infant Metabolism, Inborn Errors Handbuch idszbz Häberle Johannes Daniel Benedikt 1970- (DE-588)115472991 Mitwirkender ctb Thöny Beat 1958- (DE-588)1089257376 Mitwirkender ctb Sarafoglou Kyriakie Herausgeber edt BK020000 XK020000 XK020000 UKISP-201801 nebis EN s1me rnv RERO RE61020 RE61020 RE610200001 WS 330 5 ed 2 VAUD bium bium BMI 24431 WS 330 PED 810810001 NEBIS UKISP UKISP ULKIS K WS 330-13 Ed.2 NEBIS 700 1- Häberle Johannes Daniel Benedikt 1970- (DE-588)115472991 Mitwirkender ctb NEBIS 700 1- Thöny Beat 1958- (DE-588)1089257376 Mitwirkender ctb NEBIS 700 1- Sarafoglou Kyriakie Herausgeber edt RERO 700 1- Sarafoglou Kyriakie (RERO)A027621160 VAUD 700 1- Sarafoglou Kyriakie