The incidence and characterization of phenylketonuric patients in Estonia

Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders - three cases with different clinical presentations.

Frontiers in genetics·2025

Genetic susceptibility to temporomandibular joint involvement in juvenile idiopathic arthritis.

Journal of oral rehabilitation·2024

Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.

European journal of medical genetics·2023

The natural history of classic galactosemia: lessons from the GalNet registry.

Orphanet journal of rare diseases·2019

Genome-wide analysis of nuclear magnetic resonance metabolites revealed parent-of-origin effect on triglycerides in medium very low-density lipoprotein in PTPRD gene.

Biomarkers in medicine·2018

An epigenome-wide association study meta-analysis of educational attainment.

Molecular psychiatry·2017

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy.

Journal of inherited metabolic disease·2026

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

Journal of inherited metabolic disease·2026

Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Journal of inherited metabolic disease·2026

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Journal of inherited metabolic disease·2026

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Journal of inherited metabolic disease·2026

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Journal of inherited metabolic disease·2026

How ESG dimensions shape corporate green innovation: Necessary-condition thresholds, causal asymmetry, and the resource curse.

Journal of environmental management·2026

Defining progression in erosive tooth wear: an interpretive challenge.

Clinical oral investigations·2026

Gambling behaviour of Bradford teenagers: evidence from the Born in Bradford Age of Wonder study.

Wellcome open research·2026

Failure of P-Wave Duration as a Surrogate Marker for Left Atrial Enlargement in African Americans: Insights from the Jackson Heart Study.

Cardiology·2026

Impact of Erector Spinae Block on Postoperative Analgesia and Hospital Recovery in Coronary Artery Bypass Surgery: A Systematic Review with Meta-analysis, Meta-Regression, and Sequential Trial Analysis.

Annals of cardiac anaesthesia·2026

Dupilumab Improves Esophageal Distensibility in EoE: 24-Week Results From the REMODEL Randomized Trial.

The American journal of gastroenterology·2026

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The incidence and characterization of phenylketonuric patients in Estonia

Related Concept Videos

Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders - three cases with different clinical presentations.

Genetic susceptibility to temporomandibular joint involvement in juvenile idiopathic arthritis.

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The natural history of classic galactosemia: lessons from the GalNet registry.

Genome-wide analysis of nuclear magnetic resonance metabolites revealed parent-of-origin effect on triglycerides in medium very low-density lipoprotein in PTPRD gene.

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The incidence and characterization of phenylketonuric patients in Estonia

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