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Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases

Nenad Blau ; James Leonard ; Georg F. Hoffmann ; Joe T. R. Clarke (eds.)

Resumen/Descripción – provisto por la editorial

No disponible.

Palabras clave – provistas por la editorial

Metabolic Diseases; Pediatrics; Human Genetics; Internal Medicine; Pathology; General Practice / Family Medicine

Disponibilidad

Institución detectada	Año de publicación	Navegá	Descargá	Solicitá
No detectada	2006	SpringerLink

Información

Tipo de recurso:

libros

ISBN impreso

978-3-540-22954-4

ISBN electrónico

978-3-540-28962-3

Editor responsable

Springer Nature

País de edición

Reino Unido

Fecha de publicación

2006

Información sobre derechos de publicación

Cobertura temática

Medicina básica

Medicina clínica

Ciencias de la salud

Tabla de contenidos

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doi: 10.1007/3-540-28962-3_11

Disorders of the γ-Glutamyl Cycle

Ellinor Ristoff; Agne Larsson

Palabras clave: Glutathione Synthetase; Retinal Pigmentation; Fundamental Biological Function; Generalize Glutathione; Generalize Glutathione Synthetase.

Part Two - Approach to Treatment | Pp. 99-103

doi: 10.1007/3-540-28962-3_12

Disorders of Sulfur Amino Acid Metabolism

Bridget Wilcken

Palabras clave: Amino Acid Mixture; Total Homocysteine; Methylmalonic Acid; tHcy Level; Plasma Total Homocysteine.

Part Two - Approach to Treatment | Pp. 105-115

doi: 10.1007/3-540-28962-3_13

Inherited Hyperammonaemias

James V. Leonard

Palabras clave: Sodium Benzoate; Plasma Ammonia; Ornithine Transcarbamylase; Urea Cycle Disorder; Argininosuccinate Synthetase.

Part Two - Approach to Treatment | Pp. 117-127

doi: 10.1007/3-540-28962-3_14

Disorders of Ornithine, Lysine, and Tryptophan

Georg F. Hoffmann; Andreas Schulze

Palabras clave: Intercurrent Illness; Glutaric Aciduria Type; Creatine Monohydrate; Pyridoxine Hydrochloride; Gyrate Atrophy.

Part Two - Approach to Treatment | Pp. 129-138

doi: 10.1007/3-540-28962-3_15

Defective Transcellular Transport of Amino Acids

Susanne Schweitzer-Krantz

Palabras clave: Neutral Amino Acid; Lysinuric Protein Intolerance; Dibasic Amino Acid; Renal Tubular Disorder; Renal Tubular Defect.

Part Two - Approach to Treatment | Pp. 139-145

doi: 10.1007/3-540-28962-3_16

Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Metabolism

Hélène Ogier de Baulny; Andrea Superti-Furga

Palabras clave: Essential Fatty Acid; Unexpected Death; Mitochondrial Fatty Acid Oxidation; Ketone Body Metabolism; Plasma Carnitine Level.

Part Two - Approach to Treatment | Pp. 147-160

doi: 10.1007/3-540-28962-3_17

Disorders of Carbohydrate and Glycogen Metabolism

Jan Peter Rake; Gepke Visser; G. Peter A. Smit

Palabras clave: Glycogen Storage Disease; Glycogen Metabolism; Glycogen Storage Disease Type; Metabolic Decompensation; Classic Galactosemia.

Part Two - Approach to Treatment | Pp. 161-180

doi: 10.1007/3-540-28962-3_18

Disorders of Glucose Transport

René Santer; Jörg Klepper

Palabras clave: Glucose Transport; Ketogenic Diet; Glycogen Storage Disease; Osmotic Diarrhea; Commercial Infant Formula.

Part Two - Approach to Treatment | Pp. 181-187

doi: 10.1007/3-540-28962-3_19

Disorders of Glycerol Metabolism

Katrina M. Dipple; Edward R.B. McCabe

Palabras clave: Duchenne Muscular Dystrophy; Intercurrent Illness; Glycerol Kinase; Adrenal Crisis; Glycerol Metabolism.

Part Two - Approach to Treatment | Pp. 189-193

doi: 10.1007/3-540-28962-3_20

The Mucopolysaccharidoses

J. Edward Wraith; Joe T.R. Clarke

Palabras clave: Hematopoietic Stem Cell Transplantation; Enzyme Replacement Therapy; Mucopolysaccharidosis Type; Umbilical Cord Blood Cell; Hematopoetic Stem Cell Transplant.

Part Two - Approach to Treatment | Pp. 195-203