GeneReviews Content Summary Diagnosis Clinical Description Differential Diagnosis Management Genetic Counseling Molecular genetics Resources References DETests
GeneReviews Content Summary Diagnosis Clinical Description Differential Diagnosis Management Genetic Counseling Molecular Genetics Resources References
Genereviews Summary One paragraph on Disease characteristics Diagnosis/testing Management Genetic counseling DETests
GeneReviews Summary Disease characteristics Diagnosis/testing Management Genetic counseling One paragraph on:
A‖ GeneReview Disable Glossary Link Beta-Thalassemia Print this geneReviel [Cooley's Anemia, Mediterranean Anemia. Includes: Thalassemia Major( Beta- Thalassemia Major), Thalassemia Intermedia, Thalassemia Minor(Beta-Thalassemia Minor, Heterozygous Beta-Thalassemia) In this geneReview Antonio Cao, MD Summary Institute of Neurogenetics and Neuropharmacology Consiglio Nazionale delle Ricerche Clinical Description Cagliari, Italy Differential Diagnosis acao@mcweb unica. it Renzo Galanello. MD Genetic Counseling Department of Biomedical Sciences and Biotechnologies Molecular genetics Ospedale Regionale Microcitemie arl, ita Resources renzo galanello @mcweb unica. it References Chapter notes Initial Posting: September 28, 2000 Last Update: October 23, 2007. Related to this GeneRevi Consumer resources
Robert guthrie 249038E The father of Newborn Genetic Screening
The Father of Newborn Genetic Screening Robert Guthrie
Robert guthrie(1916-1995) Microbiologist. suny Buffalo Son with mr/dd and niece with pKu · Devised“ Guthrie test” originally to monitor PKU therapy · Conceptualized nbs for pku and the “ Guthrie spot
Robert Guthrie (1916-1995) • Microbiologist, SUNY Buffalo • Son with MR/DD and niece with PKU • Devised “Guthrie test” originally to monitor PKU therapy • Conceptualized NBS for PKU and the “Guthrie spot