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Scientific Publications

Science combined with clinical diagnostics enhances common knowledge to the benefit of the medical community. Explore our findings and stay informed about the latest discoveries.

A Novel Therapeutic Concept for Fabry Disease

Fabry disease is caused by mutations that affect the lysosomal enzyme α-galactosidase, but the pathophysiology of the disease remains to be completely understood. A recent study that was co-authored […]

Article
Oct 06, 2020
  • Metabolic Disorders
  • Nephrology
  • Cardiovascular
  • Neurology
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Novel Genetic Cause for Absence of Kidneys

Renal defects are rather common in inherited disorders, while absence of kidneys is very rare. A focused analysis of CENTOGENE’s data repository CentoMD® revealed loss-of-function mutations in GFRA1 […]

Article
Oct 04, 2020
  • WES
  • WGS
  • Mutation Database
  • Nephrology
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Moving Towards New Therapies for Fabry Disease

Fabry disease is a multi-system lysosomal storage disorder. As it is caused by an enzyme deficiency, enzyme replacement therapy is the standard treatment option. To overcome some of the issues with […]

Article
Jan 02, 2020
  • Biomarker
  • Neurology
  • Nephrology
  • Cardiovascular
  • Metabolic Disorders
  • Endocrinology
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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 […]

Article
Oct 29, 2019
  • Biomarker
  • Neurology
  • Nephrology
  • Cardiovascular
  • Metabolic Disorders
  • Endocrinology
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Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD

CENTOGENE considers its global positioning a key aspect for generating truly novel knowledge. The company’s involvement in a recent large-scale epidemiological study in India nicely exemplifies the […]

Article
Feb 27, 2019
  • Nephrology
  • Endocrinology
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Childhood Cerebral X-Linked Adrenoleukodystrophy with Atypical Neuroimaging Abnormalities and a Novel Mutation

Childhood cerebral X-linked adrenoleukodystrophy (XALD) typically manifests with symptoms of adrenocortical insufficiency and a variety of neurocognitive and behavioral abnormalities.

Article
Feb 13, 2018
  • Metabolic Disorders
  • Nephrology
  • Endocrinology
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Allgrove Syndrome with Neurological Symptoms

We report a young woman with the clinical picture of Allgrove syndrome in whom neurological symptoms are prominent. It usually presents in the first decade of life with a deficiency of tears, […]

Article
Jun 30, 2017
  • Nephrology
  • Neurology
  • Endocrinology
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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 […]

Article
Jan 03, 2015
  • Cardiovascular
  • Nephrology
  • Ophthalmology
  • Endocrinology
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