ERRORES INNATOS METABOLISMO ENFERMEDADES LISOSOMALES PDF

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Estas enfermedades tienen una baja incidencia en general, aunque hay poblaciones donde algunas de ellas tienen una alta incidencia. Investigadora Agregada. Profesora Titular. Universidad de La Habana. Investigadora Titular. Hasta el presente se han descrito alrededor de 40 tipos de enfermedades por almacenamiento lisosomal y si consideramos los diferentes subtipos y variantes llegan hasta These diseases have a low incidence in general although there are populations where they show a high incidence.

Their importance lies in what they represent as a health problem because of the poor quality of life of these patients and their early death, therefore, it is necessary to prevent the birth of new infants affected with these diseases.

Pampols T. Del Cromosoma al Gen. Barcelona, ; Diez A. Cuba, ; Galjaard H. Genetic Metabolic Diseases. Early Diagnosis and Prenatal Analysis. Biomedical Press ; The mucopolysaccharidoses: Diagnosis, molecular genetics and treatment. Mol Biol Med ; Long term effects of bone marrow transplantation for inborn errors of metabolism a study of four patients with lysosomal storage diseases.

Acta Paediatr Jpm ;feb 36 1 Maya A. Tissue fraction studies. Intracelular distribution patterns of enzymes in rat liver tissue. Biochen J ; Hers HG. Biochem J ; In bom bysosomal diseases Gastroenterology ; Lysosomal storage diseases: celular pathology, clinical and genetic heterogenelly, therapy.

Ann Biol Clin ; Gieselmann V. Lysosomal storage diseases. Blochim Biophys Acta ; Furst W, Sandhoff K. Activator proteins and topology of lysosomal sphingolipids catabolism Biochim Biophys Acta ; The transport system of mammalian lysosome.

Biochim Biophys Acta ; Gort L. Tesis Doctoral ; The metabolic and molecular basic of inherited diseases. Nueva York: Mac Graw-Hill ; Neufeld EF, Muenzer J. The Mucopolysaccharidoses. The metabolic and molecular bases of inherited disease. Lysosomes and storage diseases. Academic Press, Philip D, Dembure A.

Screening for mucopolysaccharidoses. Techniques in Diagnostic Human Biochemical Genetics. A Laboratory Manual ; Valle D eds. The Metabolic and molecular bases of inherited disease. McGraw-Hill, ; Gene diagnosis and carrier detection in Hunter syndrome by the iduronatesulphatase o DNA probe.

J Inher Metab Dis ; Brooks DA. Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models. Molec Genet Metab ; Bone marrow transplantation for Sanfilippo syndrome. En: Hobbs JR ed. First trimester diagnosis of Hunter syndrome on chorionic villi. Lancel ; Yuen M, Fensom AH.

J Inher Metab Dis ; Di Natale P, Pannone N. First-Trimester prenatal diagnosis of Sanfilippo C disease. Prenatal Diagn ; Poenaru L. First trimester prenatal diagnosis of metabolic diseases: A survey of countries from the European Community.

Prenat Diagn ; Sanfilippo syndrome type D. A spectrophotometric assay with prenatal diagnostic potential. Pediatr Res ; Acceleration of retarded growth in children with Gaucher diseases after treatment with alglucerase.

The Journal of Pediatrics ; 1 Recibido: 3 de octubre del Aprobado: 6 de octubre del

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