886 papers found
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Simultaneous Assimilation of Remotely Sensed Soil Moisture and FAPAR for Improving Terrestrial Carbon Fluxes at Multiple Sites Using CCDAS
Kreatinmangelsyndrome
Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias
Novel challenges in spinal muscular atrophy - How to screen and whom to treat?
Pediatric communication training: A project report on an innovative approach and its effects on student acceptance
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy
Cross-sectional analysis on publication status and age representation of clinical studies addressing mechanical ventilation and ventilator-induced lung injury in infants and children
Exercise Increases Adiponectin and Reduces Leptin Levels in Prediabetic and Diabetic Individuals: Systematic Review and Meta-Analysis of Randomized Controlled Trials
P 605. Epileptic Encephalopathy Caused by Mitochondrial MPC-1 Deficiency Can Benefit from Ketogenic Diet—Significance of Early Genetic Testing for a Targeted Therapy
P 781. A Cross-sectional Quantitative Analysis of the Natural History of Farber Disease: An Ultra-Orphan Condition with Rheumatologic and Neurological Cardinal Disease Features
P 694. TRIP12 Variants as a Cause of Mental Disability with or without Autism
P 780. Misdiagnosis of Child Abuse—Fibrodysplasia Ossificans Progressiva as a Therapy-Relevant Differential Diagnosis in Infancy
P 1162. Somatic Mosaics in Epileptogenic Tissue—Background and Therapeutic Implications of Molecular Changes in Structural Epilepsies
FV 697. Biallelic Mutations in SCYL1 Cause CALFAN-Syndrome (Cholestasis, Acute Liver Failure, and Neurodegeneration), A Congenital Disorder of Intracellular Trafficking with a Variable Neurological Phenotype
Endothelial progenitor cells accelerate endothelial regeneration in an in vitro model of Shigatoxin-2a-induced injury via soluble growth factors
P 520. Unclear Strokes in Pediatrics—Adenosine Deaminase 2 (ADA2) Deficiency as a Therapeutic Relevant Differential Diagnosis to Acquired Inflammatory CNS Diseases
P 705. Axenfeld-Rieger Anomaly and Neuropsychiatric Symptoms
FV 754. Newborn Screening, a Disease-Modifying Intervention for Glutaric Aciduria Type 1
SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)
Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase
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