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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.

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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