Results 141 to 150 of about 32,654 (265)

In vitro activation of rat liver phenylalanine hydroxylase by phosphorylation.

open access: hybrid, 1976
Jean‐Pierre Abita   +3 more
openalex   +1 more source

Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria

open access: yesStem Cell Research
Phenylketonuria is a rare autosomal recessive metabolic disorder mainly due to a significant reduction in the enzyme phenylalanine hydroxylase, resulting in elevation of phenylalanine in the blood. Here, we have established two fibroblast-derived induced
Desi Veleva   +5 more
doaj   +1 more source

Challenges in the management of Phenylketonuria in Malta [PDF]

open access: yes, 2016
Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is ...
Attard Montalto, Simon, Attard, Stephen
core  

CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria. [PDF]

open access: yesSci Rep, 2021
Singh K   +21 more
europepmc   +1 more source

Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology. [PDF]

open access: yesBiosci Rep, 2021
Qiang R   +14 more
europepmc   +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

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