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Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.
Mol Genet Genomic Med. 2020 Apr;8(4):e1154. doi: 10.1002/mgg3.1154. Epub 2020 Feb 5.
Mol Genet Genomic Med. 2020.
PMID: 32022462
Free PMC article.
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Muru K, Reinson K, Künnapas K, Lilleväli H, Nochi Z, Mosegaard S, Pajusalu S, Olsen RKJ, Õunap K.
Muru K, et al. Among authors: lillevali h.
Mol Genet Genomic Med. 2019 Sep;7(9):e915. doi: 10.1002/mgg3.915. Epub 2019 Aug 8.
Mol Genet Genomic Med. 2019.
PMID: 31392824
Free PMC article.
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The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records.
Lilleväli H, Reinson K, Muru K, Saarsalu S, Künnapas K, Kahre T, Murumets Ü, Õunap K.
Lilleväli H, et al.
Mol Genet Metab Rep. 2019 Mar 23;19:100467. doi: 10.1016/j.ymgmr.2019.100467. eCollection 2019 Jun.
Mol Genet Metab Rep. 2019.
PMID: 30963030
Free PMC article.
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Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.
Lilleväli H, Reinson K, Muru K, Simenson K, Murumets Ü, Möls T, Õunap K.
Lilleväli H, et al.
JIMD Rep. 2018;40:39-45. doi: 10.1007/8904_2017_61. Epub 2017 Sep 28.
JIMD Rep. 2018.
PMID: 28956315
Free PMC article.
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The incidence and characterization of phenylketonuric patients in Estonia.
Ounap K, Lilleväli H, Klaassen T, Metspalu A, Sitska M.
Ounap K, et al. Among authors: lillevali h.
J Inherit Metab Dis. 1996;19(3):381-2. doi: 10.1007/BF01799278.
J Inherit Metab Dis. 1996.
PMID: 8803791
No abstract available.
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Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.
Lilleväli H, Ounap K, Metspalu A.
Lilleväli H, et al.
Eur J Hum Genet. 1996;4(5):296-300. doi: 10.1159/000472217.
Eur J Hum Genet. 1996.
PMID: 8946176
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Development of the phenylketonuria screening programme in Estonia.
Ounap K, Lilleväli H, Metspalu A, Lipping-Sitska M.
Ounap K, et al. Among authors: lillevali h.
J Med Screen. 1998;5(1):22-3. doi: 10.1136/jms.5.1.22.
J Med Screen. 1998.
PMID: 9575455
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Mutation 985A>G in the MCAD gene shows low incidence in Estonian population.
Lilleväli H, Margus K, Ounap K, Metspalu A.
Lilleväli H, et al.
Hum Mutat. 2000 Mar;15(3):293-4. doi: 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU12>3.0.CO;2-N.
Hum Mutat. 2000.
PMID: 10679947
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