Results 171 to 180 of about 31,184 (250)

Evaluation of bone mineral density and biochemical markers in pediatric patients with phenylketonuria

open access: yesMolecular Genetics and Metabolism Reports
Objectives: Phenylketonuria is a hereditary condition caused by the deficiency of the enzyme phenylalanine hydroxylase, leading to abnormal phenylalanine metabolism.
Akram Ehsasat Vatan, M.D.   +3 more
doaj  

AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria

open access: yesMolecular Therapy: Methods & Clinical Development, 2019
Daelyn Y Richards   +6 more
semanticscholar   +1 more source

Detection of Hepatic Phenylalanine 4-Hydroxylase in Classical Phenylketonuria

open access: green, 1973
Paul A. Friedman   +3 more
openalex   +1 more source

GT to AT transition at a splice donor site causes skipping of the preceding exon in Phenylketonuria [PDF]

open access: bronze, 1987
Joshua Marvit   +5 more
openalex   +1 more source

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria

open access: yesGenetics in Medicine, 2018
S. Garbade   +7 more
semanticscholar   +1 more source

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