886 papers found
Refreshing results…
Food groups and intermediate disease markers: a systematic review and network meta-analysis of randomized trials
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
Long-term medical data storage: challenges with test results obtained by direct-to-consumer testing
Effects of oils and solid fats on blood lipids: a systematic review and network meta-analysis
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
Potatoes and risk of chronic disease: a systematic review and dose–response meta-analysis
Publication status of completed registered studies in paediatric appendicitis: a cross-sectional analysis
High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease—an ultra-orphan multisystemic lysosomal storage disorder
Using machine learning techniques to generate laboratory diagnostic pathways—a case study
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria
Mutations in PPCS , Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy
Comparative effects of different dietary approaches on blood pressure in hypertensive and pre-hypertensive patients: A systematic review and network meta-analysis
Newborn screening: A disease-changing intervention for glutaric aciduria type 1: Newborn Screening for GA1
Generating the evidence for risk reduction: a contribution to the future of food-based dietary guidelines
Letter to the editor by Winter et al.: Reply
ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency
Missing publications? Read more about our data sources.