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 …
The estimated prevalence of N-linked congenital disorders of glycosylation across various populations based on allele frequencies in general population databases
S Pajusalu, MA Vals, L Mihkla, U Šamarina… - Frontiers in …, 2021 - frontiersin.org
Congenital disorders of glycosylation (CDG) are a widely acknowledged group of metabolic
diseases. PMM2-CDG is the most frequently diagnosed CDG with a prevalence as high as …
diseases. PMM2-CDG is the most frequently diagnosed CDG with a prevalence as high as …
Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)
Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr.
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …
[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] The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records
H Lilleväli, K Reinson, K Muru, S Saarsalu… - Molecular Genetics and …, 2019 - Elsevier
Blood phenylalanine (Phe) values from the dried blood spots of all Estonian phenylketonuria
(PKU) patients have been deposited into a unified electronic laboratory database for eight …
(PKU) patients have been deposited into a unified electronic laboratory database for eight …
[HTML][HTML] Phenylketonuria in the Latvian population: molecular basis, phenylalanine levels, and patient compliance
M Kreile, O Lubina, I Ozola-Zalite, R Lugovska… - Molecular Genetics and …, 2020 - Elsevier
Introduction Phenylketonuria (PKU) is an inborn error of metabolism characterized by
pathogenic variants of the phenylalanine hydroxylase (PAH) gene with a resulting …
pathogenic variants of the phenylalanine hydroxylase (PAH) gene with a resulting …
Hospital, Ireland Congenital disorders of glycosylation (CDG) are a widely acknowledged group of metabolic diseases. PMM2-CDG is the most frequently diagnosed …
S Pajusalu, MA Vals, L Mihkla… - … Defects in Human …, 2022 - books.google.com
RESULTS The estimated prevalence from population allele frequencies of cystic fibrosis and
phenylketonuria was in accordance with previously published data (Supplementary Table …
phenylketonuria was in accordance with previously published data (Supplementary Table …
Pärilike ainevahetushaiguste diagnoosimise kokkuvõte ajavahemikul 1990–2017 TÜ Kliinikumi ühendlabori kliinilise geneetika keskuses
Taust. Pärilike ainevahetushaiguste korral on tegemist ühe biokeemilise raja sünteesi või
lagunemise häirega, mis põhjustab toksiliste metaboliitide kuhjumist organismis. Iseseisvalt …
lagunemise häirega, mis põhjustab toksiliste metaboliitide kuhjumist organismis. Iseseisvalt …
[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 …