885 papers found
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QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis
High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders
Bioenergetic dysfunction in a zebrafish model of acute hyperammonemic decompensation
Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases
A need-adapted transition program after pediatric kidney transplantation
Neurometabolic hereditary diseases of adults
Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation
Chocolate and risk of chronic disease: a systematic review and dose-response meta-analysis
Food Groups and Risk of Overweight, Obesity, and Weight Gain: A Systematic Review and Dose-Response Meta-Analysis of Prospective Studies
Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis—A cross‐sectional study
Pediatric in-hospital emergencies: real life experiences, previous training and the need for training among physicians and nurses
Risk factors for childhood overweight and obesity in Ukraine and Germany
Organoazidurien
Aminoazidopathien
Simultaneous Assimilation of Remotely Sensed Soil Moisture and FAPAR for Improving Terrestrial Carbon Fluxes at Multiple Sites Using CCDAS
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