Timely detection and diagnosis of hormone-related diseases can significantly improve prognosis. With our extensive data repository of rare diseases, we can provide you with a comprehensive medical report, including recommendations and a differential diagnosis, if applicable – allowing for genetic counseling and potential treatment options.
Articles on Endocrinology
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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 this strategy, alternatives are being explored through a collaborative effort involving researchers…
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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 CENTOGENE examined a potential link to adiponectin. Their finding of plasma adiponectin levels to…
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Enfermedad de Hunter: Cuando sospecharla, como diagnosticarla y el estudio clínico de CENTOGENE: Bio-Hunter
¿Estas interesado en aprender más sobre la enfermedad de Hunter- un desorden de depósito lisosomal causante de una serie de alteraciones en órganos como el corazón, sistema nervioso central y óseo?
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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 success of this approach. Upon genetic screening of Indian patients with chronic liver disease, many…
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Is Pancreatitis a Genetic Disease?
Pancreatitis is a common cause of life-threatening abdominal symptoms and pain. If diagnosed, especially in the young, the question as to the etiology arises. Join our guest speaker, Prof. Matthias Löhr, and co-host Prof. Peter Bauer, as they examine how genetic markers can indicate different…