The skin biopsy will be carried out for patients with a diagnosis of Niemann Pick. The biopsy is performed by the physician by means of punch biopsy (diameter 2-3 mm) under local anesthesia, preferably on the forearm (alternatively: thigh). The biopsy is immediately transferred to sterile cell culture medium and sent by center representative for the quickest possible processing to CENTOGENE's laboratory located in Germany or to professional collaborators being part of the project.

Morquio Disease

Centogene is one of the leading companies focusing on genetic testing for rare hereditary disorders.

Childrens Hospital and Institute of Child Health, Ferozepur Road

Establishment of Human Cellular Disease Models for Morquio Disease

Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease

The aim of this study is to generate patient-specific induced pluripotent stem cells and then differentiate them into chondrocytes to study the accumulation of keratin sulfate (KS) and chondroitin-6-sulfate (C6S), and possible mechanism to reduce the accumulated substances and modulate the defective enzyme

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

Skeletal Abnormalities

Psychomotor Retardation

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

NIRMAN-University of Mumbai-Institute of Research in Mental and Neurological handicap

Lady Ridgeway Hospital for Children

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

Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

For the development of the new biomarkers using the technique of mass-spectometry 10 ml EDTA blood and a dry blood spot filter card are used. To prove the correct Morquio diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Morquio will be done as routine diagnostic sequencing. The analyses will done in the Centogene AG Am Strande 7 18055 Rostock Germany

Morquio Syndrome

Accumulation of Mucopolysaccharides

Morquio Syndrome A

Morquio B Disease

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

Biomarker for Morquio Disease (BioMorquio)

Biomarker for Morquio 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

mucopolysaccharide/asthenia

Establishment of Human Cellular Disease Models for Morquio Disease

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

Biomarker for Morquio Disease (BioMorquio)

Studies of Heritable Disorders of Connective Tissue

Database tanaman obat terlengkap yang didukung oleh sains