885 papers found
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Dietary sugars and cardiometabolic risk factors: a network meta-analysis on isocaloric substitution interventions
Impact of different types of olive oil on cardiovascular risk factors: A systematic review and network meta-analysis
Urea Cycle Disorders in the US and Europe – Evidence-based Clinical Outcomes Derived from Two Decades of Experience with Prospective Registry Studies
NeuroMetabolom – A Project to Optimize the Diagnosis in Rare Neurometabolic Diseases
Pharmacologic Rescue of Hyperammonemia-induced Neurotoxicity by Inhibition of Ornithine Aminotransferase in a Zebrafish Model of Acute Hyperammonemic Encephalopathy
A Cross-sectional Quantitative Analysis of the Natural History of Alpha-mannosidosis
Individual Health Trial with Ruxolitinib in Aicardi-Goutières Syndrome Type II
Safety and Efficacy of mTOR Inhibitor Treatment in Patients with Tuberous Sclerosis Complex under 2 Years of Age
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism
Mediterranean diet and health status: Active ingredients and pharmacological mechanisms
Ultra‐orphan lysosomal storage diseases: A cross‐sectional quantitative analysis of the natural history of alpha‐mannosidosis
Gentherapien für neuromuskuläre Erkrankungen
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
Impact of different dietary approaches on blood lipid control in patients with type 2 diabetes mellitus: a systematic review and network meta-analysis
Ab1029 Fibrodysplasia Ossificans Progressiva: A Challenge to Diagnose and to Treat
Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study
Screening for asymptomatic β-cell autoimmunity in young children
Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1
Intake of 12 food groups and disability-adjusted life years from coronary heart disease, stroke, type 2 diabetes, and colorectal cancer in 16 European countries
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