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Cited by CrossRef (8)

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    https://doi.org/10.1177/22143602241296286
  2. Moyra Smith. Genetic Disease Discovery and Therapeutics. 2024.
    https://doi.org/10.1016/B978-0-443-23648-8.00003-6
  3. Soo Yeon Kim. Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics. Child Kidney Dis 2024;28:8
    https://doi.org/10.3339/ckd.24.005
  4. Giancarlo la Marca, Rachel. S. Carling, Stuart. J. Moat, Raquel Yahyaoui, Enzo Ranieri, James. R. Bonham, Peter. C. J. I. Schielen. Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm. IJNS 2023;9:15
    https://doi.org/10.3390/ijns9010015
  5. Rongzhen Zhang, Paige M. Bracci, Alan Leong, Cassandra Rapp, Michael S. McGrath. Utility of an Archival Dried Blood Spot (DBS) Collection from HIV-Infected Individuals with and without Cancer in a Resource-Limited Setting. IJMS 2024;25:10235
    https://doi.org/10.3390/ijms251910235
  6. Seon Woo Kim, Hyeon Joo Lee, Naye Choi, Ee‐Kyung Kim, Jung Min Ko. Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency. Molec Gen & Gen Med 2024;12
    https://doi.org/10.1002/mgg3.70002
  7. Zornitza Stark, Richard H. Scott. Genomic newborn screening for rare diseases. Nat Rev Genet 2023;24:755
    https://doi.org/10.1038/s41576-023-00621-w
  8. María L. Couce, María-Dolores Bóveda, Daisy E. Castiñeiras, María-Eugenia Vázquez-Mosquera, Sofía Barbosa-Gouveia, María-José De Castro, Agustin J. Iglesias-Rodríguez, Cristóbal Colón, José A. Cocho, Paula Sánchez. A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up. Orphanet J Rare Dis 2024;19
    https://doi.org/10.1186/s13023-024-03204-y