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1.
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.
Mol Genet Genomic Med
; 8(4): e1154, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32022462
2.
The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records.
Mol Genet Metab Rep
; 19: 100467, 2019 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-30963030
3.
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Mol Genet Genomic Med
; 7(9): e915, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31392824
4.
Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.
JIMD Rep
; 40: 39-45, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-28956315
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