Phenylketonuria
What's New
Last Updated: Feb 08, 2016- A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.
North Teri-Louise, et al. Journal of medical genetics 2016 2 (From HuGE Literature Finder) - Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis.
Grosse Scott D et al. Healthcare (Basel) 3(4) 1133-1157 (From Genomics & Health Impact Scan Database) - Kentucky Newborn Screening Program
Disease: NA; Type: Program; State: Kentucky (From Implementation Database) - State of Kansas Genetics Plan 2010[PDF 6.71 MB]
Disease: Multiple Diseases; Type: Data|Policy|Program; State: Kansas (From Implementation Database) - Newborn Screening (North Carolina)
Disease: NA; Type: Program|General Information; State: North Carolina (From Implementation Database) - Newborn Screening Program
Disease: NA; Type: Program; State: New Hampshire (From Implementation Database) - Newborn Screening
Disease: NA; Type: Program; State: Nevada (From Implementation Database) - Newborn Screening in Nebraska
Disease: NA; Type: Program; State: Nebraska (From Implementation Database) - State Plan for Genetic Services in Missouri[PDF 81.12 KB]
Disease: Multiple Diseases; Type: Data|Policy|Program; State: Missouri (From Implementation Database) - Pennsylvania Genetic Services Program
Disease: Multiple Diseases; Type: General Information; State: Pennsylvania (From Implementation Database) - Oklahoma State Genetics Plan
Disease: Multiple Diseases; Type: Policy|Program; State: Oklahoma (From Implementation Database) - Newborn Screening for Metabolic, Endocrine, and Genetic Conditions (Ohio)
Disease: NA; Type: Program; State: Ohio (From Implementation Database) - Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol Elise, et al. Orphanet journal of rare diseases 2015 0 (1) 158 (From HuGE Literature Finder) - Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Al-Jasmi Fatma A et al. JIMD reports 2015 Nov (From Genomics & Health Impact Scan Database) - Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.
Bayat Allan, et al. Clinical genetics 2015 11 (From HuGE Literature Finder) - NEWBORN METABOLIC SCREENING PROGRAM
Disease: NA; Type: Program; State: Hawaii (From Implementation Database) - Idaho Newborn Screening Program
Disease: NA; Type: Program; State: Idaho (From Implementation Database) - Genetic Program Manual for Local Health Departments (August, 2008) (Iowa)[PDF 2.45 MB]
Disease: Multiple Diseases; Type: Tools|Program; State: Illinois (From Implementation Database) - Illinois State Genetics Plan (2007)[PDF 2.04 MB]
Disease: Multiple Diseases; Type: Policy|Education|Program; State: Illinois (From Implementation Database) - A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population.
Britschgi Corinne, et al. Gene 2015 10 (From HuGE Literature Finder)
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