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1.9: Malattie del ricambio e della nutrizione, sindromi e malattie allergiche / diretto dal prof. Paolo Introzzi ; collaboratori alla nona parte Camillo Benso Ballabio...[et al.]
| 1.9: Malattie del ricambio e della nutrizione, sindromi e malattie allergiche / diretto dal prof. Paolo Introzzi ; collaboratori alla nona parte Camillo Benso Ballabio...[et al.] |
| Pubbl/distr/stampa | Firenze; Roma, : SADEA Sansoni, 1967 |
| Descrizione fisica | 977 p. : ill. ; 27 cm |
| Disciplina | 616.39 |
| Soggetto topico |
Malattie metaboliche
Allergie |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | ita |
| Record Nr. | UNISA-996405750003316 |
| Firenze; Roma, : SADEA Sansoni, 1967 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
| ||
62582-4-2022 - IEC/IEEE International Standard - Nuclear power plants - Instrumentation and control important to safety - Electrical equipment condition monitoring methods . Part 4 Oxidation induction techniques / / IEEE
| 62582-4-2022 - IEC/IEEE International Standard - Nuclear power plants - Instrumentation and control important to safety - Electrical equipment condition monitoring methods . Part 4 Oxidation induction techniques / / IEEE |
| Pubbl/distr/stampa | New York : , : IEEE, , 2022 |
| Descrizione fisica | 1 online resource (64 pages) |
| Disciplina | 616.39 |
| Soggetto topico |
Oxidative stress
Nuclear power plants - Instruments4xTesting |
| ISBN | 1-5044-9131-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | 62582-4-2022 - IEC/IEEE International Standard - Nuclear power plants - Instrumentation and control important to safety - Electrical equipment condition monitoring methods - Part 4 |
| Record Nr. | UNISA-996575138903316 |
| New York : , : IEEE, , 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
| ||
Advances in metabolic disorders
| Advances in metabolic disorders |
| Pubbl/distr/stampa | New York - London, : [s.n.] |
| Disciplina | 616.39 |
| ISSN | 0065-2903 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-990008886910403321 |
| New York - London, : [s.n.] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Annals of nutrition & metabolism
| Annals of nutrition & metabolism |
| Pubbl/distr/stampa | [Basel, Switzerland], : Karger |
| Disciplina | 616.39 |
| Soggetto topico |
Diet in disease
Nutrition Nutritional Sciences Nutritional and Metabolic Diseases Régimes alimentaires Stoffwechselkrankheit Zeitschrift Online-Ressource Ernährungskrankheit Diätetik |
| Soggetto genere / forma |
Periodical
periodicals. Periodicals. Périodiques. |
| ISSN | 1421-9697 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Annals of nutrition and metabolism |
| Record Nr. | UNISA-996209671003316 |
| [Basel, Switzerland], : Karger | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. di Salerno | ||
| ||
Annals of nutrition & metabolism
| Annals of nutrition & metabolism |
| Pubbl/distr/stampa | [Basel, Switzerland], : Karger |
| Disciplina | 616.39 |
| Soggetto topico |
Diet in disease
Nutrition Nutritional Sciences Nutritional and Metabolic Diseases Régimes alimentaires Stoffwechselkrankheit Zeitschrift Online-Ressource Ernährungskrankheit Diätetik |
| Soggetto genere / forma |
Periodical
periodicals. Periodicals. Périodiques. |
| ISSN | 1421-9697 |
| Formato | Materiale a stampa |
| Livello bibliografico | Periodico |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Annals of nutrition and metabolism |
| Record Nr. | UNINA-9910146945303321 |
| [Basel, Switzerland], : Karger | ||
| 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 | ||
| ||
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-9910817962603321 |
|
Nyhan William L. <1926->
|
||
| Boca Raton : , : CRC Press, , 2018 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
The Cleveland Clinic Manual of Dynamic Endocrine Testing [[electronic resource] /] / by Ahmet Bahadir Ergin, A. Laurence Kennedy, Manjula K. Gupta, Amir H. Hamrahian
| The Cleveland Clinic Manual of Dynamic Endocrine Testing [[electronic resource] /] / by Ahmet Bahadir Ergin, A. Laurence Kennedy, Manjula K. Gupta, Amir H. Hamrahian |
| Autore | Ergin Ahmet Bahadir |
| Edizione | [1st ed. 2015.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2015 |
| Descrizione fisica | 1 online resource (119 p.) |
| Disciplina |
610
616.39 616.4 616.46 616462 |
| Soggetto topico |
Endocrinology
Diabetes Metabolic diseases Diagnostic Techniques, Endocrine |
| Soggetto genere / forma | Handbook |
| ISBN | 3-319-13048-X |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Part I: Dynamic Tests in Pituitary/Adrenal Disorders -- ACTH Stimulation Test for Adrenal Insufficiency with Total Cortisol Levels -- ACTH Stimulation Test for Adrenal Insufficiency with Free Cortisol Levels -- ACTH Stimulation Test for Late Onset (Non-classic) 21-Hydroxylase Deficiency -- Metyrapone Stimulation Test -- Two Day Low Dose Dexamethasone Suppression Test -- Combined CRH Dexamethasone Suppression Test -- Overnight Low Dose Dexamethasone Suppression Test – 1 mg -- Overnight High Dose Dexamethasone Suppression Test – 8 mg -- Ovine Corticotropin Releasing Hormone (oCRH) Stimulation Test -- Insulin Tolerance Test (ITT) -- Glucagon Stimulation Test for GHD (GST) -- GHRH-Arginine GH Stimulation Test -- Growth Hormone Suppression Test (Post-Glucose Administration) -- Clonidine Suppression Test for Pheochromocytoma -- Intravenous Saline Suppression Test for Evaluation of Primary Aldosteronism -- Oral Sodium Loading Test -- Captopril Challenge Test -- Water Deprivation Test for DI -- Part II: Dynamic Tests in Thyroid Disorders -- Thyroid Cancer Follow-up: Withdrawal Protocol -- Thyroid Cancer Follow-up: Thyrogen Injection with No Scan -- Thyroid Cancer Follow-up: Thyrogen Injection with Scan with/without Treatment -- Levothyroxine Absorption Test -- Part III: Dynamic Tests in Glucose Metabolism/Pancreas Disorders -- Seventy-two Hour Fast for Insulinoma -- Glucagon Stimulation to Test Beta Cell Reserve -- Mixed Meal Hypoglycemia Test -- Secretin Stimulation Test for Gastrinoma -- Part IV: Invasive Dynamic Endocrine Testing -- Inferior Petrosal Sinus Sampling -- Adrenal Venous Sampling. |
| Record Nr. | UNINA-9910300224703321 |
|
Ergin Ahmet Bahadir
|
||
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Clinical endocrinology and metabolism / / by Pauline Camacho
| Clinical endocrinology and metabolism / / by Pauline Camacho |
| Autore | Camacho Pauline M. |
| Edizione | [First edition.] |
| Pubbl/distr/stampa | Boca Raton, FL : , : CRC Press, an imprint of Taylor and Francis, , [2011] |
| Descrizione fisica | 1 online resource (225 p.) |
| Disciplina | 616.39 |
| Collana | Medical Color Handbook Series |
| Soggetto topico |
Metabolism - Disorders
Endocrine glands - Diseases Endocrinology |
| Soggetto genere / forma | Electronic books. |
| ISBN |
0-429-06902-2
1-282-96666-9 9786612966668 1-84076-585-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Contents; Preface; Acknowledgements; Contributors; Abbreviations; CHAPTER I Thyroid disorders; CHAPTER 2 Diabetes mellitus; CHAPTER 3 Metabolic bone disorders; CHAPTER 4 Hypothalamic-pituitary disorders; CHAPTER 5 Adrenal disorders; CHAPTER 6 Female and male reproductive disorders; CHAPTER 7 Lipid disorders; CHAPTER 8 Multiple endocrine neoplasia, neuroendocrine tumors, and other endocrine disorders; Further reading and bibliography; Index |
| Record Nr. | UNINA-9910458874203321 |
|
Camacho Pauline M.
|
||
| Boca Raton, FL : , : CRC Press, an imprint of Taylor and Francis, , [2011] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
