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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

Verificá que desde tu institución tengas acceso para descargar o solicitar el libro completo o alguno de sus capítulos.

doi: 10.1007/3-540-28962-3_1

Emergency Management of Metabolic Diseases

Georg F. Hoffmann; Joe T.R. Clarke; James V. Leonard

Palabras clave: Fabry Disease; Orotic Acid; Pyridoxal Phosphate; Maple Syrup Urine Disease; Metabolic Decompensation.

Part One - Initial Approaches | Pp. 3-13

doi: 10.1007/3-540-28962-3_2

The Role of Communication in the Treatment of Inborn Metabolic Diseases

Peter Burgard; Udo Wendel

Palabras clave: Genetic Counselling; Information Transfer; Successful Communication; Index Child; Successful Coping.

Part One - Initial Approaches | Pp. 15-21

doi: 10.1007/3-540-28962-3_3

Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism

Nenad Blau; Peter Burgard

Palabras clave: Folinic Acid; Phenylalanine Hydroxylase; COMT Inhibitor; Health Consensus Development; Plasma Phenylalanine.

Part Two - Approach to Treatment | Pp. 25-34

doi: 10.1007/3-540-28962-3_4

Disorders of Neurotransmission

Georg F. Hoffmann; Robert Surtees

Palabras clave: Tyrosine Hydroxylase; Folinic Acid; Pyridoxal Phosphate; Succinic Semialdehyde; Progressive Encephalopathy.

Part Two - Approach to Treatment | Pp. 35-42

doi: 10.1007/3-540-28962-3_5

Disorders of GABA, Glycine, Serine, and Proline

Jaak Jaeken; Tom J. de Koning

Palabras clave: Sodium Benzoate; Succinic Semialdehyde; Fetal Treatment; Glycine Cleavage System; Nonketotic Hyperglycinemia.

Part Two - Approach to Treatment | Pp. 43-48

doi: 10.1007/3-540-28962-3_6

Disorders of Tyrosine Degradation

Elisabeth Holme

Palabras clave: Tyrosinemia Type; Tyrosine Level; Tyrosinaemia Type; Hereditary Tyrosinemia Type; Phenylalanine Restricted Diet.

Part Two - Approach to Treatment | Pp. 49-55

doi: 10.1007/3-540-28962-3_7

Disorders of Histidine Metabolism

Nenad Blau

Palabras clave: Public Health; Internal Medicine; General Practice; Metabolic Disease; Family Medicine.

Part Two - Approach to Treatment | Pp. 57-58

doi: 10.1007/3-540-28962-3_8

Disorders of Leucine Metabolism

Rebecca S. Wappner; K. Michael Gibson

Palabras clave: Maple Syrup Urine Disease; Maple Syrup Urine Disease; Intercurrent Illness; Metabolic Decompensation; Leucine Intake.

Part Two - Approach to Treatment | Pp. 59-79

doi: 10.1007/3-540-28962-3_9

Disorders of Valine-Isoleucine Metabolism

Bruce A. Barshop

Palabras clave: Propionic Acidemia; Methylmalonic Acidemia; Organic Acidemia; Methylmalonic Acidaemia; Holocarboxylase Synthetase.

Part Two - Approach to Treatment | Pp. 81-92

doi: 10.1007/3-540-28962-3_10

Various Organic Acidurias

Alberto Burlina; John Walter

Palabras clave: Canavan Disease; Organic Aciduria; Nonviral Gene Delivery; ASPA Gene; Malonyl Coenzyme.

Part Two - Approach to Treatment | Pp. 93-97