Pompe's disease

• Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance

  2026 Journal of Neurology review Medicine Lysosomal Storage Disorders Research Open access

  1

  citations
• C -Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease

  2025 Journal of Medicinal Chemistry article Medicine Lysosomal Storage Disorders Research Open access

  2

  citations
• The GENESIS database and tools: A decade of discovery in Mendelian genomics

  2024 Experimental Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  6

  citations
• The Role of Patient Organizations in Shaping Research, Health Policies, and Health Services for Rare Genetic Diseases: The Dutch Experience

  2024 Genes article Health Professions Mental Health and Patient Involvement Open access

  6

  citations
• Deep structured learning for variant prioritization in Mendelian diseases

  2023 Nature Communications article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  46

  citations
• Modern therapeutic approaches to liver-related disorders

  2022 Journal of Hepatology article Biochemistry, Genetics and Molecular Biology RNA Interference and Gene Delivery cited by 1 patent

  49

  citations

6 results