scholarly article | Q13442814 |
P356 | DOI | 10.1016/J.YMGMR.2020.100671 |
P698 | PubMed publication ID | 33101986 |
P2093 | author name string | M Kreile | |
N Pronina | |||
L Gailite | |||
I Malniece | |||
I Ozola-Zalite | |||
M Konika | |||
O Lubina | |||
O Sterna | |||
P Vevere | |||
R Lugovska | |||
P2860 | cites work | Standards 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 Pathology | Q34465792 |
The reality of dietary compliance in the management of phenylketonuria | Q37725745 | ||
Genetics of Phenylketonuria: Then and Now. | Q38751728 | ||
Adherence to clinic recommendations among patients with phenylketonuria in the United States | Q38761359 | ||
The complete European guidelines on phenylketonuria: diagnosis and treatment. | Q42376686 | ||
The molecular basis of phenylketonuria in Lithuania | Q44375048 | ||
The molecular basis of phenylketonuria in Latvia | Q44375052 | ||
ClinVar: improving access to variant interpretations and supporting evidence | Q47104237 | ||
Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening | Q47909624 | ||
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 Russia | Q61812051 | ||
The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records | Q64058835 | ||
Genotype-phenotype correlations and BH estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil | Q64071488 | ||
Phenylketonuria | Q85246863 | ||
The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra | Q92243255 | ||
P921 | main subject | Latvia | Q211 |
P304 | page(s) | 100671 | |
P577 | publication date | 2020-10-20 | |
P1433 | published in | Molecular Genetics and Metabolism Reports | Q27725363 |
P1476 | title | Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance | |
P478 | volume | 25 |
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