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

Laboratory Blood Test For the development of the new biomarkers using the technique of Mass-spectometry, a blood sample of maximal 10 ml blood will be taken via using a dry blood spot filter card. To proof the correct MPS1 diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing of MPS1 will be done. The analyses will be done at the Centogene AG Am Strande 7 18055 Rostock Germany

Mucopolysaccharidosis Type I

Gargoylism

Metabolism, Inborn Errors

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.

Children's Hospital, Faculty of Medicine, Ain Shams University

Centogene AG

Amrita Institute of Medical Sciences & Research Centre

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

Lady Ridgeway Hospital for Children

Biomarker for Hurler Disease (BioHurler)

Biomarker for Hurler 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.

Centogene AG Rostock

Patients with Mucolipidosis Disorder type I,II,III or IV or high-grade suspicion for Mucolipidosis Disorder type I,II,III or IV

For the development of the new biomarkers using the technique of Mass-spectometry 10 ml EDTA blood or a dry blood spot filter card are taken. To proof the correct mucolipidosis disorder type I, II, III or IV diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing of mucolipidosis disorder type I, II, III or IV will be done. The analyses will done in the Centogene AG Am Strande 7 18055 Rostock Germany

kyphosis/carbohydrate

Biomarker for Hurler Disease (BioHurler)

Biomarker for Mucolipidosis Disorder Type I, II, III, IV (BioML)

המאגר השלם ביותר של צמחי מרפא המגובה על ידי המדע