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Adipositas- und metabolische Chirurgie / / herausgegeben von Jürgen Ordemann, Ulf Elbelt
| Adipositas- und metabolische Chirurgie / / herausgegeben von Jürgen Ordemann, Ulf Elbelt |
| Edizione | [1st ed. 2017.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 |
| Descrizione fisica | 1 online resource (XII, 183 S. 87 Abb., 82 Abb. in Farbe.) |
| Disciplina | 617.55059 |
| Soggetto topico |
Abdomen - Surgery
Metabolism - Disorders Minimally invasive surgery Gastroenterology Diabetes Abdominal Surgery Metabolic Diseases Minimally Invasive Surgery |
| ISBN | 3-662-48698-9 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | ger |
| Nota di contenuto | Adipositaserkrankung -- Konservative Therapie der Adipositas -- Chirurgische Therapie der Adipositas -- Metabolische Chirurgie. - Operationsvorbereitung -- Anästhesie -- Laparoskopisches Magenband -- Laparoskopischer Schlauchmagen -- Laparoskopischer Magenbypass -- Laparoskopischer Mini-Bypass/Omega.– Laparoskopische Biliopankreatische Diversion (BDP nach Scopinaro).– Laparoskopische Biliopankreatische Diversion mit Duodenalswitch -- Postoperatives Management -- Redo-Operationen -- Spezielle Patientengruppen in der bariatrischen Chirurgie.– Adipositaszentrum -- Umfeld der Adipositaschirurgie und Ausblick in neue Entwicklungen. |
| Record Nr. | UNINA-9910165150203321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Advances in Diabetes Research and Management / / edited by Rana Noor
| Advances in Diabetes Research and Management / / edited by Rana Noor |
| Edizione | [1st ed. 2023.] |
| Pubbl/distr/stampa | Singapore : , : Springer Nature Singapore : , : Imprint : Springer, , 2023 |
| Descrizione fisica | 1 online resource (261 pages) |
| Disciplina | 616.462 |
| Soggetto topico |
Human physiology
Metabolism Molecular probes Metabolism - Disorders Human Physiology Biological Sensors and Probes Metabolic Disease |
| ISBN |
9789811900273
9789811900266 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | 1. Biochemical Assay for Measuring Diabetes Mellitus -- 2. Diabetes and other comorbidities-Microvascular and Macrovascular diseases Diabetes and Cancer -- 3. Diabetes and Cardiovascular Disorder -- 4. Diabetes and Neurological Disorders -- 5. Diabetic and nephropathy -- 6. Technology in the management of type 1 and type 2 diabetes mellitus - recent status and future prospects -- 7. The Broader aspects of Treating Diabetes with the Application of Nanobiotechnology -- 8. A comprehensive pharmacological appraisal of Indian traditional medicinal plants with Antidiabetic potential -- 9. Diabetes management - From "Painful" pricks to "Painfree" bliss -- 10. Diabetes mellitus and iPSC based therapy -- 11. ketogenic diet and. Diabetics' of gut microbe on diabetics. |
| Record Nr. | UNINA-9910682582303321 |
| Singapore : , : Springer Nature Singapore : , : Imprint : Springer, , 2023 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Air Pollution and Health Effects / / edited by Srikanth S. Nadadur, John W. Hollingsworth
| Air Pollution and Health Effects / / edited by Srikanth S. Nadadur, John W. Hollingsworth |
| Edizione | [1st ed. 2015.] |
| Pubbl/distr/stampa | London : , : Springer London : , : Imprint : Springer, , 2015 |
| Descrizione fisica | 1 online resource (448 p.) |
| Disciplina | 615.902 |
| Collana | Molecular and Integrative Toxicology |
| Soggetto topico |
Pharmacology
Environmental health Epidemiology Metabolism - Disorders Respiratory organs—Diseases Pharmacology/Toxicology Environmental Health Metabolic Diseases Pneumology/Respiratory System |
| ISBN | 1-4471-6669-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Reactive Ambient Particles -- Impacts of Air Pollution on Reproductive Health -- Air Pollution and Pregnancy Outcomes -- Air Pollution and Asthma -- Air pollution and chronic obstructive airway disease- Airborne Carcinogens – Mechanisms of Cancer -- Molecular epidemiology focused on airborne carcinogens -- Diabetes and metabolic syndrome -- Air Pollution, Lipids and Atherosclerosis -- Particulate Air Pollution and CNS Health.-Innate and adaptive immunity -- Genetics -- Urban Air Pollution and Health in Developing Countries -- Using Science to Shape Policy. |
| Record Nr. | UNINA-9910298292903321 |
| London : , : Springer London : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Alcoholic/Non-Alcoholic Digestive Diseases / / edited by Hitoshi Yoshiji, Kosuke Kaji
| Alcoholic/Non-Alcoholic Digestive Diseases / / edited by Hitoshi Yoshiji, Kosuke Kaji |
| Edizione | [1st ed. 2019.] |
| Pubbl/distr/stampa | Singapore : , : Springer Singapore : , : Imprint : Springer, , 2019 |
| Descrizione fisica | 1 online resource (VIII, 166 p. 25 illus., 19 illus. in color.) |
| Disciplina | 616.33 |
| Soggetto topico |
Gastroenterology
Hepatology Metabolism - Disorders Metabolic Diseases |
| ISBN | 981-13-1465-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Part 1 Alcoholic/Nonalcoholic Gastrointestinal Diseases.-1 Alcohol-induced DNA injury in esophagus cancer.-2 Metabolic diseases and GERD -- 3 Post H. pylori gastric diseases.-4 New perspectives in gastric cancer.-5 Role of alcohol and metabolic diseases in colon cancer -- Part 2 Alcoholic/Nonalcoholic Liver Diseases -- 6 Alcoholic liver injury -- 7 Diabetes in liver diseases -- 8 Obesity and hepatocarcinogenesis -- 9 Microbiota in alcoholic liver disease.-10 Microbiota in non-alcoholic liver disease -- 11 Role of oxidative stress in liver disease -- 12 Role of apoptosis in liver disease -- Part 3 Alcoholic/Nonalcoholic Pancreatic Diseases -- 13 Genetic factor in pancreas diseases -- 14 New perspectives in pancreas cancer. |
| Record Nr. | UNINA-9910350228403321 |
| Singapore : , : Springer Singapore : , : Imprint : Springer, , 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Aldehyde Dehydrogenases : From Alcohol Metabolism to Human Health and Precision Medicine / / edited by Jun Ren, Yingmei Zhang, Junbo Ge
| Aldehyde Dehydrogenases : From Alcohol Metabolism to Human Health and Precision Medicine / / edited by Jun Ren, Yingmei Zhang, Junbo Ge |
| Edizione | [1st ed. 2019.] |
| Pubbl/distr/stampa | Singapore : , : Springer Singapore : , : Imprint : Springer, , 2019 |
| Descrizione fisica | 1 online resource (xx, 253 pages) |
| Disciplina | 612.0151 |
| Collana | Advances in Experimental Medicine and Biology |
| Soggetto topico |
Molecular biology
Enzymology Human physiology Metabolism - Disorders Molecular Medicine Human Physiology Metabolic Diseases |
| ISBN | 981-13-6260-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | 1. Role of alcohol oxidative metabolism in its cardiovascular and autonomic effects -- 2. Environmental aldehyde sources and the health implications of exposure -- 3. ALDH2 and cardiovascular disease -- 4. Aldehyde dehydrogenases: From alcohol metabolism to human health and precision medicine -- 5. Aldehyde dehydrogenase 2 and heart Failure -- 6. Mitochondrial aldehyde dehydrogenase in myocardial ischemic and ischemia-reperfusion injury -- 7. East Asian variant aldehyde dehydrogenase 2 genotype (ALDH2*2*) contributes to coronary artery spasm and acute myocardial infarction -- 8. Aldehyde dehydrogenases genetic polymorphism and obesity: from genomics to behavior and health -- 9. Aldehyde dehydrogenase (ALDH) 2 in diabetic heart diseases -- 10. The role of ALDH2 in sepsis and the to-be-discovered mechanisms -- 11. ALDH2 and stroke -- 12. ALDH2 and hypertension -- 13. ALDH2 and cancer therapy -- 14. ALDH2 polymorphism and ethanol consumption: A genetic-environmental interaction in carcinogenesis -- 15. ALDH2 and aging. |
| Record Nr. | UNINA-9910350351003321 |
| Singapore : , : Springer Singapore : , : Imprint : Springer, , 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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AMP-activated Protein Kinase / / edited by Mario D. Cordero, Benoit Viollet
| AMP-activated Protein Kinase / / edited by Mario D. Cordero, Benoit Viollet |
| Edizione | [1st ed. 2016.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2016 |
| Descrizione fisica | 1 online resource (X, 523 p. 55 illus., 42 illus. in color.) |
| Disciplina | 572.792 |
| Collana | Experientia Supplementum |
| Soggetto topico |
Human physiology
Clinical biochemistry Metabolism - Disorders Human Physiology Medical Biochemistry Metabolic Diseases |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Part I: AMPK in health -- Structure and Regulation of AMPK -- AMPK Regulation of Carbohydrate Metabolism -- AMPK Regulation of Lipid Metabolism -- AMPK Regulation of Protein Metabolism -- AMPK Regulation of cell growth, apoptosis, autophagy and bioenergetics -- AMPK Regulation of immunology -- AMPK and Stem Cells -- Part II: AMPK in the diseases -- AMPK in metabolic diseases -- AMPK in neurodegenerative diseases -- AMPK in cardiovascular diseases -- AMPK in cancer -- AMPK in aging -- AMPK in musculoskeletal diseases and pain -- AMPK in pathogens -- Part III: Pharmacology of AMPK -- Metformin, new drugs and AMPK -- Small molecules and AMPK -- Nutraceutical compounds and AMPK -- Part IV: Methods of study in AMPK -- Animal models -- In vitro study methods. |
| Record Nr. | UNINA-9910149489103321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2016 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Analysis of complex diseases : a mathematical perspective / / Guanyu Wang
| Analysis of complex diseases : a mathematical perspective / / Guanyu Wang |
| Autore | Wang Guanyu (Physicist) |
| Pubbl/distr/stampa | Boca Raton : , : CRC Press, Taylor & Francis Group, , [2014] |
| Descrizione fisica | 1 online resource (xxi, 196 pages) : illustrations (some color) |
| Disciplina | 616.3/9 |
| Collana | Gale eBooks |
| Soggetto topico |
Metabolism - Disorders
Systems biology Biological models Genetic disorders |
| ISBN |
0-429-07190-6
1-4665-7221-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Food intake and energy metabolism -- Glucose homeostasis -- Optimal glucose homeostasis -- Bistability as a fundamental phenomenon -- Biomolecular network -- P13K-AKT-TOR pathway -- Diseases related to metabolism -- Mathematical modeling of the P13K-AKT-TOR Pathway -- Fundamental decomposition -- Normal phenotype -- Disease phenotypes -- Tao of diseases. |
| Record Nr. | UNINA-9910787329803321 |
Wang Guanyu (Physicist)
|
||
| Boca Raton : , : CRC Press, Taylor & Francis Group, , [2014] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Analysis of complex diseases : a mathematical perspective / / Guanyu Wang
| Analysis of complex diseases : a mathematical perspective / / Guanyu Wang |
| Autore | Wang Guanyu (Physicist) |
| Pubbl/distr/stampa | Boca Raton : , : CRC Press, Taylor & Francis Group, , [2014] |
| Descrizione fisica | 1 online resource (xxi, 196 pages) : illustrations (some color) |
| Disciplina | 616.3/9 |
| Collana | Gale eBooks |
| Soggetto topico |
Metabolism - Disorders
Systems biology Biological models Genetic disorders |
| ISBN |
0-429-07190-6
1-4665-7221-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Food intake and energy metabolism -- Glucose homeostasis -- Optimal glucose homeostasis -- Bistability as a fundamental phenomenon -- Biomolecular network -- P13K-AKT-TOR pathway -- Diseases related to metabolism -- Mathematical modeling of the P13K-AKT-TOR Pathway -- Fundamental decomposition -- Normal phenotype -- Disease phenotypes -- Tao of diseases. |
| Record Nr. | UNINA-9910808866503321 |
|
Wang Guanyu (Physicist)
|
||
| Boca Raton : , : CRC Press, Taylor & Francis Group, , [2014] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Atlas of inherited metabolic diseases
| Atlas of inherited metabolic diseases |
| Autore | Nyhan William L. <1926-> |
| Edizione | [Fourth edition.] |
| Pubbl/distr/stampa | Boca Raton : , : CRC Press, , 2018 |
| Descrizione fisica | 1 online resource (871 pages) |
| Disciplina | 616.39 |
| Soggetto topico | Metabolism - Disorders |
| ISBN |
1-315-11403-8
1-138-19660-6 1-138-19662-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | PART 1: ORGANIC ACIDEMIAS. Introduction to the organic acidemias. Propionic academia. Methylmalonic academia. Cobalamin C, D, F, G diseases; methylmalonic aciduria and homocystinuria. The methylmalonic aciduria of deficiency of AcylCoA synthetase (ACSF3). Multiple carboxylase deficiency/holocarboxylase synthetase deficiency. Multiple carboxylase deficiency/biotinidase deficiency. Isovaleric academia. Glutaric aciduria (type I). 3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria. D-2-hydroxyglutaric aciduria. L-2-hydroxyglutaric aciduria. 4-Hydroxybutyric aciduria. PART 2: DISORDERS OF AMINO ACID METABOLOISM. Alkaptonuria. Phenylketonuria. Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin. Biogenic amines. Homocystinuria. Maple syrup urine disease (branched-chain oxoaciduria). Branched chain keto acid dehydrogenase kinase (BCKDK) deficiency. Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency. Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency. Nonketotic hyperglycinemia. Serine deficiencies. PART 3: HYPERAMMONEMIA AND DISORDERS OF THE UREA CYCLE. Introduction to hyperammonemia and disorders of the urea cycle. Ornithine transcarbamylase deficiency. Carbamylphosphate synthetase deficiency. Citrullinemia type I. Argininosuccinic aciduria. Argininemia. Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome. Lysinuric protein intolerance. Glutamine synthetase deficiency. PART 4: DISORDERS OF FATTY ACID OXIDATION. Introduction to disorders of fatty acid oxidation. Carnitine transporter deficiency. Carnitine-ayclcarnitine translocase deficiency. Carnitine palmitoyl transferase I deficiency. Carnitine palmitoyl transferase II deficiency, lethal neonatal. Medium-chain acyl CoA dehydrogenase deficiency. Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Long chain L-3-hydroxyacl CoA dehydrogenase deficiency -- (trifunctional protein) deficiency. Short-chain acyl CoA dehydrogenase (SCAD) deficiency. Short-chain 3-hydroxyacylCoA dehydrogenase (SCHAD) deficiency. Short/branched-chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency. Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria, type II ethylmalonic-adipic aciduria. 3-Hydroxy-3-methylglutarylCoA lyase deficiency. PART 5: THE LACTIC ACIDEMIAS AND MITOCHONDRIAL DISEASE. Introduction to the lactic acidemias. Pyruvate carboxylase deficiency. Fructose-1,6-diphosphatase deficiency. Deficiency of the pyruvate dehydrogenase complex. Mitochondrial encephalomyelopathy, lactic acidosis, and stroke-like episodes (MELAS). Myoclonic epilepsy and ragged red fiber (MERRF) disease. Neurodegeneration, ataxia and retinitis pigmentosa (NARP). Kearns-Sayre syndrome. Pearson syndrome. The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency. PART 6: DISORDERS OF CARBOHYDRATE METABOLISM. Galactosemia. Glycogen storage disease: introduction. Glycogenosis type I -- von Gierke disease. Glycogenosis type II/Pompe/lysosomal [alpha]-glucosidase deficiency. Glycogenosis type III/amylo-1,6-glucosidase (debrancher) deficiency. PART 7: PEROXISOMAL DISORDERS. Adrenoleukodystrophy. Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis. PART 8: DISORDERS OF PURINE AND PYRIDINE METABOLISM. Introduction to the disorders of purine and pyrimidine deficiencies. Lesch-Nyhan disease and variants. Adenine phosphoribosyltransferase (APRT) deficiency. Phosphoribosylpyrophosphate synthetase and its abnormalities. Adenosine deaminase deficiency. Adenosine kinase deficiency. Purine nucleoside phosphorylase deficiency. Adenylosuccinate lyase deficiency. Santhinuria, xanthine oxidase deficiency. Orotic aciduria. Molybdenum cofactor deficiency. PART 9: MUCOPOLYSACCHARIDOSES. Introduction to mucopolysaccharidoses. Hurler disease/mucopolysaccharidosis type IH (MPSIH)/[alpha]-L-iduronidase deficiency. Scheie and Hurler-Scheie diseases/mucopolysaccharidosis IS and IHS/[alpha]-iduronidase deficiency. Hunter disease/mucopolysaccharidosis type II/iduronate sulfatase deficiency. Sanfilippo disease/mucopolysaccharidosis type III. Morquio syndrome/mucopolysaccharidosis type IV/keratan sulfaturia. Maroteaux-Lamy disease/mucopolysaccharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency. Sly disease/[beta]-glucuronidase deficiency/mucopolysaccharidosis VII. PART 10: MUCOLIPIDOSIS. Mucolipidosis II and III/ (I-cell and pseudo-Hurler polydystrophy N-acetyl-glucosaminyl-l-phosphotransferase deficiency. PART 11: DISORDERS OF CHOLESTEROL AND NEUTRAL LIPID METABOLISM. Familial hypercholesterolemia. Mevalonic aciduria. Lipoprotein lipase deficiency/type I hyperlipoproteinemia. PART 12: LIPID STORAGE DISORDERS. Fabry disease. Tay-Sachs disease/hexosaminidase A deficiency. Sandhoff disease/GM2 gangliosidosis/deficiency of Hex A and Hex B subunit deficiency. Gaucher disease. Niemann-Pick disease. Niemann-Pick type C disease/cholesterol-processing abnormality. Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy. Lysosomal acid lipase deficiency: Wolman disease/cholesteryl ester storage disease. Fucosidosis. [alpha]-Mannosidosis ([beta]-Mannosidosis). Galactosialidosis. Metachromatic leukodystrophy. Multiple sulfatase deficiency. PART 13: MISCELLANEOUS. Disorders of vitamin B6 metabolism. PMM2-CDG (Congenital disorders of glycosylation, type Ia). Ethylmalonic encephalopathy. Disorders of creatine metabolism. GLUT1 deficiency. Hypophosphatasia. NBAS/RALF deficiency. [alpha]1-Antitrypsin deficiency. |
| Record Nr. | UNINA-9910794013203321 |
|
Nyhan William L. <1926->
|
||
| Boca Raton : , : CRC Press, , 2018 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Atlas of inherited metabolic diseases
| Atlas of inherited metabolic diseases |
| Autore | Nyhan William L. <1926-> |
| Edizione | [Fourth edition.] |
| Pubbl/distr/stampa | Boca Raton : , : CRC Press, , 2018 |
| Descrizione fisica | 1 online resource (871 pages) |
| Disciplina | 616.39 |
| Soggetto topico | Metabolism - Disorders |
| ISBN |
1-315-11403-8
1-138-19660-6 1-138-19662-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | PART 1: ORGANIC ACIDEMIAS. Introduction to the organic acidemias. Propionic academia. Methylmalonic academia. Cobalamin C, D, F, G diseases; methylmalonic aciduria and homocystinuria. The methylmalonic aciduria of deficiency of AcylCoA synthetase (ACSF3). Multiple carboxylase deficiency/holocarboxylase synthetase deficiency. Multiple carboxylase deficiency/biotinidase deficiency. Isovaleric academia. Glutaric aciduria (type I). 3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria. D-2-hydroxyglutaric aciduria. L-2-hydroxyglutaric aciduria. 4-Hydroxybutyric aciduria. PART 2: DISORDERS OF AMINO ACID METABOLOISM. Alkaptonuria. Phenylketonuria. Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin. Biogenic amines. Homocystinuria. Maple syrup urine disease (branched-chain oxoaciduria). Branched chain keto acid dehydrogenase kinase (BCKDK) deficiency. Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency. Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency. Nonketotic hyperglycinemia. Serine deficiencies. PART 3: HYPERAMMONEMIA AND DISORDERS OF THE UREA CYCLE. Introduction to hyperammonemia and disorders of the urea cycle. Ornithine transcarbamylase deficiency. Carbamylphosphate synthetase deficiency. Citrullinemia type I. Argininosuccinic aciduria. Argininemia. Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome. Lysinuric protein intolerance. Glutamine synthetase deficiency. PART 4: DISORDERS OF FATTY ACID OXIDATION. Introduction to disorders of fatty acid oxidation. Carnitine transporter deficiency. Carnitine-ayclcarnitine translocase deficiency. Carnitine palmitoyl transferase I deficiency. Carnitine palmitoyl transferase II deficiency, lethal neonatal. Medium-chain acyl CoA dehydrogenase deficiency. Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Long chain L-3-hydroxyacl CoA dehydrogenase deficiency -- (trifunctional protein) deficiency. Short-chain acyl CoA dehydrogenase (SCAD) deficiency. Short-chain 3-hydroxyacylCoA dehydrogenase (SCHAD) deficiency. Short/branched-chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency. Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria, type II ethylmalonic-adipic aciduria. 3-Hydroxy-3-methylglutarylCoA lyase deficiency. PART 5: THE LACTIC ACIDEMIAS AND MITOCHONDRIAL DISEASE. Introduction to the lactic acidemias. Pyruvate carboxylase deficiency. Fructose-1,6-diphosphatase deficiency. Deficiency of the pyruvate dehydrogenase complex. Mitochondrial encephalomyelopathy, lactic acidosis, and stroke-like episodes (MELAS). Myoclonic epilepsy and ragged red fiber (MERRF) disease. Neurodegeneration, ataxia and retinitis pigmentosa (NARP). Kearns-Sayre syndrome. Pearson syndrome. The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency. PART 6: DISORDERS OF CARBOHYDRATE METABOLISM. Galactosemia. Glycogen storage disease: introduction. Glycogenosis type I -- von Gierke disease. Glycogenosis type II/Pompe/lysosomal [alpha]-glucosidase deficiency. Glycogenosis type III/amylo-1,6-glucosidase (debrancher) deficiency. PART 7: PEROXISOMAL DISORDERS. Adrenoleukodystrophy. Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis. PART 8: DISORDERS OF PURINE AND PYRIDINE METABOLISM. Introduction to the disorders of purine and pyrimidine deficiencies. Lesch-Nyhan disease and variants. Adenine phosphoribosyltransferase (APRT) deficiency. Phosphoribosylpyrophosphate synthetase and its abnormalities. Adenosine deaminase deficiency. Adenosine kinase deficiency. Purine nucleoside phosphorylase deficiency. Adenylosuccinate lyase deficiency. Santhinuria, xanthine oxidase deficiency. Orotic aciduria. Molybdenum cofactor deficiency. PART 9: MUCOPOLYSACCHARIDOSES. Introduction to mucopolysaccharidoses. Hurler disease/mucopolysaccharidosis type IH (MPSIH)/[alpha]-L-iduronidase deficiency. Scheie and Hurler-Scheie diseases/mucopolysaccharidosis IS and IHS/[alpha]-iduronidase deficiency. Hunter disease/mucopolysaccharidosis type II/iduronate sulfatase deficiency. Sanfilippo disease/mucopolysaccharidosis type III. Morquio syndrome/mucopolysaccharidosis type IV/keratan sulfaturia. Maroteaux-Lamy disease/mucopolysaccharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency. Sly disease/[beta]-glucuronidase deficiency/mucopolysaccharidosis VII. PART 10: MUCOLIPIDOSIS. Mucolipidosis II and III/ (I-cell and pseudo-Hurler polydystrophy N-acetyl-glucosaminyl-l-phosphotransferase deficiency. PART 11: DISORDERS OF CHOLESTEROL AND NEUTRAL LIPID METABOLISM. Familial hypercholesterolemia. Mevalonic aciduria. Lipoprotein lipase deficiency/type I hyperlipoproteinemia. PART 12: LIPID STORAGE DISORDERS. Fabry disease. Tay-Sachs disease/hexosaminidase A deficiency. Sandhoff disease/GM2 gangliosidosis/deficiency of Hex A and Hex B subunit deficiency. Gaucher disease. Niemann-Pick disease. Niemann-Pick type C disease/cholesterol-processing abnormality. Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy. Lysosomal acid lipase deficiency: Wolman disease/cholesteryl ester storage disease. Fucosidosis. [alpha]-Mannosidosis ([beta]-Mannosidosis). Galactosialidosis. Metachromatic leukodystrophy. Multiple sulfatase deficiency. PART 13: MISCELLANEOUS. Disorders of vitamin B6 metabolism. PMM2-CDG (Congenital disorders of glycosylation, type Ia). Ethylmalonic encephalopathy. Disorders of creatine metabolism. GLUT1 deficiency. Hypophosphatasia. NBAS/RALF deficiency. [alpha]1-Antitrypsin deficiency. |
| Record Nr. | UNINA-9910799942103321 |
|
Nyhan William L. <1926->
|
||
| Boca Raton : , : CRC Press, , 2018 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||