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

Centogene AG Rostock

achlorhydria

asthenia

achlorhydria/asthenia

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

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