Congenital dopamine beta-hydroxylase deficiency

Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2025

Mother and daughter with Kenny-Caffey syndrome: the adult phenotype.

European journal of medical genetics·2024

Failure to confirm abnormal copper utilization in crinkler (cr) mice.

Biological trace element research·2013

Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA.

European journal of neurology·2012

Propionic acidemia: neonatal versus selective metabolic screening.

Journal of inherited metabolic disease·2011

Mutation analysis in 54 propionic acidemia patients.

Journal of inherited metabolic disease·2011

1-month versus 12-month dual antithrombotic therapy after percutaneous coronary intervention in patients with atrial fibrillation (OPTIMA-AF): a multicentre, open-label, hybrid non-inferiority and superiority, randomised, controlled trial.

Lancet (London, England)·2026

Multidomain lifestyle intervention for the prevention of cognitive decline in at-risk older adults in Latin America (LatAm-FINGERS): a single-blind, multicentre, randomised controlled trial.

Lancet (London, England)·2026

Advancing the relevance of clinical trials for older patients.

Lancet (London, England)·2026

Temocillin versus carbapenems for bacteraemia due to third-generation cephalosporin-resistant Enterobacterales in Spain (ASTARTÉ): a multicentre, phase 3, open-label, non-inferiority, randomised clinical trial.

Lancet (London, England)·2026

Fixed-duration pirtobrutinib plus venetoclax-rituximab versus venetoclax-rituximab for patients with previously treated chronic lymphocytic leukaemia or small lymphocytic lymphoma (BRUIN CLL-322): an open-label, multicentre, randomised, controlled, phase 3 trial.

Lancet (London, England)·2026

Children in all policies: lessons from a global collaboration to promote the health and wellbeing of children and future generations.

Lancet (London, England)·2026

Cuproptosis-related Gene SLC31A1 Correlates with M2 Macrophage Infiltration and Serves as a Potential Therapeutic Target in Glioma: A Comprehensive Analysis of 1573 Samples from TCGA and CGGA Databases.

Recent patents on anti-cancer drug discovery·2026

Statistical analysis plan considerations for autologous cell and cell-based gene therapy clinical trials.

Journal of biopharmaceutical statistics·2026

Designs of the clinical trials aiming at evaluating cell and gene therapy products: A critical appraisal from a literature review.

Molecular therapy. Advances·2026

Longitudinal drug response assessment of tumor organoids based on optical attenuation coefficient and multi-dimensional morphological characterization.

Biomedical optics express·2026

Nanosensitive optical coherence tomography to monitor corneal burn and treatment response in vivo.

Biomedical optics express·2026

Contemporary perspectives on metabolic surgery for type 2 diabetes: surgical techniques, outcomes, and complications.

Frontiers in endocrinology·2026

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