Výsledky vyhledávání - "Antonio Nino, Ramirez"

Akademický článek

Growth patterns in patients with mucopolysaccharidosis VII

Autor: Adriana M. Montaño, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Antonio Nino Ramirez, Lin Zhang, Deborah Marsden, Raymond Y. Wang, Paul Harmatz

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100987- (2023)

Objective: This study assessed growth patterns in patients with mucopolysaccharidosis (MPS) VII before enzyme replacement therapy. Methods: Height, weight, and body mass index (BMI) measurements and Z-scores from patients from three clinical studies

Externí odkaz: https://doaj.org/article/68199889bc9745e98000b49f745e7638

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Akademický článek

Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders

Autor: Hanns Lochmüller, Antonio Nino Ramirez, Emil Kakkis

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021)

Abstract It has recently been suggested that registries for rare neuromuscular diseases should be formed and governed exclusively by physicians and patients in an effort to limit conflicts of interest. Enacting such an approach would not only be chal

Externí odkaz: https://doaj.org/article/2a91e3dfeaad46499ad48404ad595a09

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Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program

Autor: Jerry, Vockley, Gregory M, Enns, Antonio Nino, Ramirez, Camille L, Bedrosian, Bridget, Reineking, Xiaoxiao, Lu, Kathryn, Ray, Syeda, Rahman, Deborah, Marsden

Publikováno v: Molecular Genetics and Metabolism. 136:152-162

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of inborn errors of metabolism wherein patients are unable to process long-chain fatty acids into useable energy in the mitochondria. LC-FAOD commonly affects organ systems with high ene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ad41a5377c572b426effb71c1f91b6f
https://doi.org/10.1016/j.ymgme.2022.04.001

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Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders

Autor: Emil D. Kakkis, Antonio Nino Ramirez, Hanns Lochmüller

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021)
Orphanet Journal of Rare Diseases

It has recently been suggested that registries for rare neuromuscular diseases should be formed and governed exclusively by physicians and patients in an effort to limit conflicts of interest. Enacting such an approach would not only be challenging l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e27f699812d088ba3026f0d3277832cf
https://doi.org/10.1186/s13023-021-01687-7

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