Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria

Resilience strengthening in youth with a chronic medical condition: a randomized controlled feasibility trial of a combined app and coaching program.

European child & adolescent psychiatry·2024

Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency.

Molecular genetics and metabolism·2022

Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE.

Orphanet journal of rare diseases·2021

Cardiac phenotype in propionic acidemia - Results of an observational monocentric study.

Molecular genetics and metabolism·2020

Evaluation of lipoprotein-associated phospholipase A2 as a marker for renal microvasculopathy in adolescents with Type 1 diabetes.

Diabetic medicine : a journal of the British Diabetic Association·2019

Multiple cytokines for the detection of Mycobacterium tuberculosis infection in children with tuberculosis.

The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease·2017