General News
News list
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MERH Lunch talk
"Vielleicht überlegen sich die Fachärzte gar nicht, dass uns das so verletzt." - Eine qualitative Interviewstudie zu den Erlebnissen von Betroffenen einer seltenen Krankheit.
Referent: Sebastian WäscherDienstag, 10. Oktober 2023, 12:15-13:30
Universität Zürich, Rämistrasse 58, 8001 Zürich, RAA-G-15 -
NEW PUBLICATION - Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization
Advances in the use of Big Data, learning algorithms and powerful computers improve research into serious metabolic disease.
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NEW PUBLICATION - Calcineurin regulates aldosterone production via dephosphorylation of FATc4
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NEW PUBLICATION - Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta‑analysis
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NEW PUBLICATION - Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
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NEW PUBLICATION - Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria
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NEW PUBLICATION - Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism
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NEW PUBLICATION - Tubular cell plasticity—new hope for autosomal dominant polycystic kidney disease?
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NEW PUBLICATION - Defective Cystinosin, Aberrant Autophagy−Endolysosome Pathways, and Storage Disease: Towards Assembling the Puzzle
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NEW PUBLICATION - AQP1 Promoter Variant, Water Transport and Outcome in Peritoneal Dialysis
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NEW PUBLICATION - Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria
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NEW PUBLICATION - Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease
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NEW PUBLICATION - Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia
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NEW PUBLICATION - An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis
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NEW PUBLICATION - Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice
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NEW PUBLICATION - A systematic review of moral reasons on orphan drug reimbursement
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NEW PUBLICATION - Assessing transport across the peritoneal membrane: Precision medicine in dialysis
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NEW PUBLICATION - Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness
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NEW PUBLICATION - Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
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NEW PUBLICATION - Receptor-Mediated Endocytosis and Differentiation in Proximal Tubule Cell Systems
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