The genetic landscape and epidemiology of phenylketonuria
A Hillert, Y Anikster, A Belanger-Quintana… - The American Journal of …, 2020 - cell.com
Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is
the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We …
the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We …
Carriers of autosomal recessive conditions: are they really 'unaffected?'
A Hames, S Khan, C Gilliland, L Goldman… - Journal of Medical …, 2024 - jmg.bmj.com
Mendel's Law of Dominance suggests that recessive disease expression requires the
inheritance of two mutated alleles as the dominant, wildtype allele suppresses disease …
inheritance of two mutated alleles as the dominant, wildtype allele suppresses disease …
[HTML][HTML] The Prevalence and incidence of congenital phenylketonuria in 59 countries: A systematic review
N Mojibi, S Ghazanfari-Sarabi… - Journal of pediatrics …, 2021 - jpr.mazums.ac.ir
Phenylalanine Hydroxylase (PAH; EC 1.14. 16.1) is a hepatic enzyme, which hydroxylates
the side-chain of Phenylalanine (Phe) to form Tyrosine (Tyr). Furthermore, the deficiency of …
the side-chain of Phenylalanine (Phe) to form Tyrosine (Tyr). Furthermore, the deficiency of …
[HTML][HTML] Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier
K Klaassen, M Djordjevic, A Skakic, B Kecman… - Molecular Genetics and …, 2021 - Elsevier
Phenylketonuria (PKU) is an inborn error of metabolism caused by variants in the
phenylalanine hydroxylase (PAH) gene and it is characterized by excessively high levels of …
phenylalanine hydroxylase (PAH) gene and it is characterized by excessively high levels of …
Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management
Y Yıldız, HS Sivri - European Journal of Pediatrics, 2019 - Springer
Untreated phenylketonuria (PKU) in pregnancy causes a severe embryopathy called
maternal PKU syndrome. Here, we aimed to assess management issues and pregnancy …
maternal PKU syndrome. Here, we aimed to assess management issues and pregnancy …
[HTML][HTML] Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria
SM Khan, RR Heister, JR Keathley - Lifestyle Genomics, 2024 - karger.com
Background: Phenylketonuria (PKU) is an autosomal recessive genetic condition that results
in reduced enzymatic functioning within the phenylalanine hydroxylase (PAH) pathway …
in reduced enzymatic functioning within the phenylalanine hydroxylase (PAH) pathway …
Methylome repatterning in a mouse model of Maternal PKU Syndrome
SF Dobrowolski, J Lyons-Weiler, A Biery… - Molecular Genetics and …, 2014 - Elsevier
Abstract Maternal PKU Syndrome (MPKU) is an embryopathy resulting from in utero
phenylalanine (PHE) toxicity secondary to maternal phenylalanine hydroxylase deficient …
phenylalanine (PHE) toxicity secondary to maternal phenylalanine hydroxylase deficient …
[PDF][PDF] A Systematic Review of Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries Running title: Phenylketonuria Worldwide distribution
N Mojibi, S Ghazanfari-Sarabi - researchgate.net
Abstract Background and Objective: Phenylketonuria is the most frequent inborn error of
metabolism, in which newborns cannot metabolize phenylalanine to tyrosine. Increased …
metabolism, in which newborns cannot metabolize phenylalanine to tyrosine. Increased …
[引用][C] Hiperfenilalaninemili hastaların gebelik sonuçlarının incelenmesi
Y Yildiz - Tıp Fakültesi