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Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases

scientific article published on 10 June 2019

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

artículo científico publicado en 2020

Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency

scientific article published on 18 September 2020

Precision Medicine for Lysosomal Disorders

artículo científico publicado en 2020

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world

artículo científico publicado en 2020

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

article

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