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

Participants with suspicion for Alpha-Mannosidosis based on their clinical symptoms aged from 2 months to 18 years

Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

Immunodeficiency

Skeletal Abnormalities

Deafness

Mental Retardation

Gingival Hypertrophy

Facial Dysmorphism

CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for patients

Uniklinik RWTH Aachen Klinik für Kinder- und Jugendmedizin

Charité - Universitätsmedizin Berlin, Leitung Sozialpädiatrisches Zentrum, Klinik für Pädiatrie m.S. Neurologie

Ruhruniversität Bochum im St. Josef Hospital, Klinik für Kinder- und Jugendmedizin

Carl-Thiem-Klinikum Cottbus GmbH, Sozialpädiatrisches Zentrum

Carl-Thiem-Klinikum Cottbus GmbH, Klinik für Kinder und Jugendmedizin

Universitätsklinikum Essen, Klinik für Hals-Nasen und Ohrenheilkunde

Universitätsklinikum Gießen, Zentrum für Kinderheilkunde und Jugendmedizin, Abteilung für Kinderneurologie, Sozialpädiatrie und Epileptologie

Universitätsklinikum Halle Universitätsklinik und Poliklinik für Pädiatrie I

UKE - Universitätsklinikum Hamburg-Eppendorf Klinik und Poliklinik für Hals-, Nasen- und Ohrenheilkunde

Medizinische Hochschule Hannover, Deutsches HörZentrum Hannover

Universitätsklinikum Jena, Klinik für Hals-, Nasen- und Ohrenheilkunde

Universitätsklinikum Jena, Klinik für Neuropädiatrie

UNIVERSITÄTSKLINIKUM LEIPZIG AöR, Klinik und Poliklinik für Hals-, Nasen-, Ohrenheilkunde

Evangelisches Krankenhaus Mülheim, Sozialpädiatrisches Zentrum,

Sozialpädiatrisches Zentrum der HTZ Neuwied gGmbH

Evangelisches Krankenhaus Oberhausen, Sozialpädiatrisches Zentrum

Elblandkliniken Stiftung & Co. KG - Elblandklinkum Riesa Sozialpädiatrisches Zentrum und Frühförderstelle

Klinik für Kinder-und Jungendmedizin des Universitätsklinikums Ulm

Zentrum für Kinder und Jugendliche Sozialpädiatrisches Zentrum (SPZ) im Marien-Hospital

HNO-Universitätsklinik, Universitätsspital Basel

Inselspital Bern Universitätsklinik für Neurologie

European Alpha-Mannosidosis Participant

European Alpha-Mannosidosis Participant: An International, Multicenter, Epidemiological Protocol

Number of identified Alpha-Mannosidosis patients, showing a mutation/pathogenic variant in the MAN2B1-Gene, within a cohort of 1000 suspected cases using respective patient's dry-blood sample for confirmatory genetic testing (NGS-based sequencing of MAN2B1-gene)

Alpha-Mannosidosis-positive samples will be validated for the identification of potential biomarkers (based on MS/MS-Tandem spectroscopy) and compared with the merged control samples in order establish a disease-specific biomarker.

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

For the development of the new biomarkers using the technique of Mass-spectrometry 2,7 ml EDTA blood or a dry blood spot filter card are taken. To proof the correct Mannosidosis diagnosis in those patients where up to the en-rollment in the study no genetic testing has been done, sequencing of Manno-sidosis disease will be done. The analyses will be done at the Centogene AG Am Strande 7 18055 Rostock Germany

Alpha-Mannosidase B Deficiency

Lysosomal Alpha B Mannosidosis

Alpha-Mannosidase Deficiency

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 Mannosidosis Disease (BioMannosidosis)

Biomarker for Mannosidosis 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.

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

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

Amrita Institute of Medical Sciences & Research Centre

Biomarker for Morquio Disease (BioMorquio)

Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

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

genu valgum/kurlums

Establishment of Human Cellular Disease Models for Morquio Disease

European Alpha-Mannosidosis Participant

Biomarker for Mannosidosis Disease (BioMannosidosis)

Biomarker for Morquio Disease (BioMorquio)

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