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5 results on '"Iurașcu MI"'

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1. At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.

2. Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

3. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

4. Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.

5. C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.

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