Development of a new MS-based biomarker for the early and sensitive diagnosis of Sly disease from blood (plasma)
Who can participate
Age range2 Months
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
INCLUSION CRITERIA:
* Informed consent will be obtained from the parents before any study related procedures
* Patients of both genders older than 2 months
* The patient has a diagnosis of Sly disease or a high-grade suspicion for Sly disease
* High-grade suspicion present, if one or more inclusion criteria are valid:
Positive family anamnesis for Sly disease
Developmental delay and/or progressive mental deterioration
Skeletal abnormalities
Hepatomegaly
Splenomegaly
EXCLUSION CRITERIA:
* No Informed consent from the parents before any study related procedures.
* Patients of both genders younger than 2 months
* No diagnosis of Sly disease or no valid criteria for profound suspicion of Sly disease
What they're measuring
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Development of a new MS-based biomarker for the early and sensitive diagnosis of Sly disease from blood (plasma)