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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_21

Oligosaccharidoses and Related Disorders

Generoso Andria; Giancarlo Parenti

Palabras clave: Enzyme Replacement Therapy; Fabry Disease; Gauche Disease; Lysosomal Storage Disease; Central Nervous System Manifestation.

Part Two - Approach to Treatment | Pp. 205-215

doi: 10.1007/3-540-28962-3_22

Congenital Disorders of Glycosylation

Jaak Jaeken

Palabras clave: Hyperinsulinemic Hypoglycemia; Phosphomannose Isomerase; Biochemical Monitoring; Osmotic Diarrhea; Normalize Neutrophil Count.

Part Two - Approach to Treatment | Pp. 217-220

doi: 10.1007/3-540-28962-3_23

Cystinosis

Erik Harms

Palabras clave: Peritoneal Dialysis; Endstage Renal Failure; Excessive Drinking; Carnitine Supplementation; Recombinant Growth Hormone.

Part Two - Approach to Treatment | Pp. 221-229

doi: 10.1007/3-540-28962-3_24

Other Storage Disorders

Joe T.R. Clarke

Palabras clave: Hematopoietic Stem Cell Transplantation; Sialic Acid; Enzyme Replacement Therapy; Fabry Disease; Neuronal Ceroid Lipofuscinosis.

Part Two - Approach to Treatment | Pp. 231-244

doi: 10.1007/3-540-28962-3_25

Inborn Errors of Purine and Pyrimidine Metabolism

Albert H. van Gennip; Jörgen Bierau; William L. Nyhan

Palabras clave: Adenosine Deaminase; Orotic Acid; Hypoxanthine Phosphoribosyltransferase; Adenine Phosphoribosyltransferase; Uricosuric Agent.

Part Two - Approach to Treatment | Pp. 245-253

doi: 10.1007/3-540-28962-3_26

Disorders of Creatine Metabolism

Sylvia Stöckler-Ipsiroglu; Roberta Battini; Ton DeGrauw; Andreas Schulze

Palabras clave: Creatine Monohydrate; Creatine Transporter; Creatine Synthesis; Creatine Uptake; Gyrate Atrophy.

Part Two - Approach to Treatment | Pp. 255-265

doi: 10.1007/3-540-28962-3_27

Peroxisomal Disorders

Hanna Mandel

Palabras clave: Hematopoietic Stem Cell Transplantation; Phytanic Acid; Zellweger Syndrome; Peroxisomal Disorder; Very Long Chain Fatty Acid.

Part Two - Approach to Treatment | Pp. 267-277

doi: 10.1007/3-540-28962-3_28

Hyperoxaluria

Bernd Hoppe; Ernst Leumann

Palabras clave: Enzyme Replacement Therapy; Calcium Oxalate; Primary Hyperoxaluria; CaOx Crystal; Urinary Oxalate Excretion.

Part Two - Approach to Treatment | Pp. 279-285

doi: 10.1007/3-540-28962-3_29

Mitochondrial Energy Metabolism

Carolien Boelen; Jan Smeitink

Palabras clave: Lactic Acidosis; Mitochondrial Disease; Evoke Potential; Hereditary Spastic Paraplegia; Fumarate Hydratase.

Part Two - Approach to Treatment | Pp. 287-299

doi: 10.1007/3-540-28962-3_30

Genetic Dyslipoproteinemias

Serena Tonstad; Brian McCrindle

Palabras clave: Coronary Heart Disease; National Cholesterol Education Program; Familial Hypercholesterolemia; Familial Hypercholesterolemia; Homozygous Familial Hypercholesterolemia.

Part Two - Approach to Treatment | Pp. 301-308