Chronic Diarrhea

Moustafa Abd Ellatif

Epidemiology of Chronic Diarrhea Among Children Admitted to Gastroenterology Unit at Assuit University Children Hospital

Not yet recruiting: Participants are not yet being recruited

moustafa abd ellatif

director clinical research

Assiut University

Patients with Wolman disease or high-grade suspicion for Wolman disease

For the development of the new biomarkers using the technique of Mass-spectometry, maximal 7,5 ml blood will be taken from the patient via using a dry blood spot filter card. To prove the correct Wolman disease diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing of Wolman disease will be done. The analyses will be done at the Centogene AG Am Strande 7 18055 Rostock Germany

Acid Lipase Deficiency

Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type

Cholesterol Ester Storage Disease

Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.

Centogene AG

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Lady Ridgeway Hospital for Children

Biomarker for Wolman Disease (BioWolman)

Biomarker for Wolman Disease, AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.

the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.

steatorrhea/palavik

Epidemiology of Chronic Diarrhea Among Children Admitted to Gastroenterology Unit at Assuit University Children Hospital

Biomarker for Wolman Disease (BioWolman)

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