Scientific Publications
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A new biomarker function for a long-known hormone
Adiponectin is a hormone with well-known relevance to cardiac and renal function. As Fabry disease (FD), a rare metabolic disorder, often manifests with cardiac and/or renal symptoms, researchers at […]
New genetic cause of severe heart disease
Heart disease is a clinically and genetically diverse condition. In two siblings with a fatal outcome, compound heterozygosity for variants in the ASNA1 gene was identified as the only plausible […]
Genotype Phenotype Correlation in a New Fabry-Disease-Causing Mutation
The interpretation of missense variants in a disease context is challenging, especially for variants that have never been reported before. In metabolic disorders, the potential of biochemical […]
Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping
Mass-spectrometry based quantification of biomarkers is a routine step in the diagnostic workup of many diseases at CENTOGENE. In addition, these well-established tools are increasingly being […]
Posterior versus Anterior Circulation Stroke in Young Adults: A Comparative Study of Stroke Aetiologies and Risk Factors in Stroke among Young Fabry Patients
Although 20–30% of all strokes occur in the posterior circulation, few studies have explored the characteristics of patients with strokes in the posterior compared to the anterior circulation so far. […]
Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease
Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting hemizygous males and heterozygous females. The intracellular storage affects different organ systems, causing severe […]
Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome)
Anomalous origin of left coronary artery from pulmonary artery (ALCAPA), also known as the Bland-White-Garland syndrome, is a rare congenital abnormality, with an incidence of 1 in 300,000 live […]
Biallelic Truncating Mutations in ALPK3
Cardiomyopathies are usually inherited and predominantly affect adults, but they can also present in childhood. Although our understanding of the molecular basis of pediatric cardiomyopathy has […]
Pierson Syndrome: A Case Report with a Neonatal Cardiac Association Based on a Novel Mutation in the LAMB2 Gene
Congenital nephrotic syndrome (CNS) combined with eye abnormalities including microcoria (small pupils that don’t respond to light) and abnormal lens shape can suggest a clinical diagnosis of Pierson […]