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 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 …

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

BL Therrell, CD Padilla, GJC Borrajo… - International Journal of …, 2024 - mdpi.com
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 …

[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 …

[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 …

[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 …

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 …

Pärilike ainevahetushaiguste diagnoosimise kokkuvõte ajavahemikul 1990–2017 TÜ Kliinikumi ühendlabori kliinilise geneetika keskuses

E Tiivoja, K Muru, P Kool, K Reinson, K Rähn, K Õunap - Eesti Arst, 2020 - ojs.utlib.ee
Taust. Pärilike ainevahetushaiguste korral on tegemist ühe biokeemilise raja sünteesi või
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 …