<i>PLS3</i> Mutations in X-Linked Osteoporosis with Fractures
2013 · New England Journal of Medicine · 199 citations
https://doi.org/10.1056/nejmoa1308223
M
M. Estela Rubio‐Gozalbo
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M. Estela Rubio‐Gozalbo is an academic researcher from Maastricht University Medical Centre. The author has contributed to research in topics: Metabolism and Genetic Disorders & Diet and metabolism studies & Mitochondrial Function and Pathology. The author has an h-index of 42, co-authored 148 publications.
ORCID: 0000-0001-7182-4056Papers by this author
worksThe natural history of classic galactosemia: lessons from the GalNet registry
2019 · Orphanet Journal of Rare Diseases · 147 citations
https://doi.org/10.1186/s13023-019-1047-z
Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome
2000 · Journal of Lipid Research · 114 citations
https://doi.org/10.1016/s0022-2275(20)33442-8
Social‐cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU‐COBESO study
2016 · Journal of Inherited Metabolic Disease · 85 citations
https://doi.org/10.1007/s10545-016-9918-0
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study
2017 · Behavior Genetics · 70 citations
https://doi.org/10.1007/s10519-017-9863-1
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)
2009 · Human Genetics · 60 citations
https://doi.org/10.1007/s00439-009-0653-6
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