U-IMD: the first Unified European registry for inherited metabolic diseases
2021 · Orphanet Journal of Rare Diseases · 38 citations
https://doi.org/10.1186/s13023-021-01726-3
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Natalia Juliá‐Palacios
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Natalia Juliá‐Palacios is an academic researcher from Hospital Sant Joan de Déu Barcelona. The author has contributed to research in topics: Metabolism and Genetic Disorders & Genetics and Neurodevelopmental Disorders & Mitochondrial Function and Pathology. The author has an h-index of 12, co-authored 29 publications.
ORCID: 0000-0002-2560-3970Papers by this author
worksPrevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
2023 · Molecular Genetics and Metabolism · 18 citations
https://doi.org/10.1016/j.ymgme.2023.107624
Expanding the phenotypic spectrum of <i>TRAPPC11-</i>related muscular dystrophy: 25 Roma individuals carrying a founder variant
2023 · Journal of Medical Genetics · 11 citations
https://doi.org/10.1136/jmg-2022-109132
The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series
2025 · Respiratory Medicine Case Reports · 0 citations
https://doi.org/10.1016/j.rmcr.2025.102202
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