Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance

scientific article published on 20 October 2020

Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.YMGMR.2020.100671
P698PubMed publication ID33101986

P2093author name stringM Kreile
N Pronina
L Gailite
I Malniece
I Ozola-Zalite
M Konika
O Lubina
O Sterna
P Vevere
R Lugovska
P2860cites workStandards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyQ34465792
The reality of dietary compliance in the management of phenylketonuriaQ37725745
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Adherence to clinic recommendations among patients with phenylketonuria in the United StatesQ38761359
The complete European guidelines on phenylketonuria: diagnosis and treatment.Q42376686
The molecular basis of phenylketonuria in LithuaniaQ44375048
The molecular basis of phenylketonuria in LatviaQ44375052
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Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal ScreeningQ47909624
Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.Q50544679
VarSome: the human genomic variant search engine.Q58093158
Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in RussiaQ61812051
The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory recordsQ64058835
Genotype-phenotype correlations and BH estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast BrazilQ64071488
PhenylketonuriaQ85246863
The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectraQ92243255
P921main subjectLatviaQ211
P304page(s)100671
P577publication date2020-10-20
P1433published inMolecular Genetics and Metabolism ReportsQ27725363
P1476titlePhenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance
P478volume25

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