Deficiencia de lipasa ácida lisosomal: una causa poco reconocida de dislipemia y disfunción hepática
2020 · Anales de Pediatría · 0 citations
https://doi.org/10.1016/j.anpedi.2020.02.006
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Raquel Pérez Delgado
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Raquel Pérez Delgado is an academic researcher from Hospital Universitario Miguel Servet. The author has contributed to research in topics: Metabolism and Genetic Disorders & Genetics and Neurodevelopmental Disorders & Lysosomal Storage Disorders Research. The author has an h-index of 4, co-authored 29 publications.
Papers by this author
worksSíndrome de Allan-Herndon-Dudley: un diagnóstico a descartar ante todo lactante varón con hipotonía sin causa determinada
2022 · Andes pediatrica · 0 citations
https://doi.org/10.32641/andespediatr.v93i3.3904
Description of a patient with developmental delay and dysmorphic features caused by a novel SHANK2 deletion
2023 · Egyptian Journal of Medical Human Genetics · 0 citations
https://doi.org/10.1186/s43042-023-00462-6
Abusive Head Trauma in Infants: A Case Review (2016-Present) and Prevention Strategies
2025 · Revista de Neurología · 0 citations
https://doi.org/10.31083/rn38855
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