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Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Eur J Hum Genet. 2024 Apr;32(4):426-434. doi: 10.1038/s41431-023-01526-2. Epub 2024 Feb 5.
Eur J Hum Genet. 2024.
PMID: 38316953
Plasma coenzyme Q10 status is impaired in selected genetic conditions.
Montero R, Yubero D, Salgado MC, González MJ, Campistol J, O'Callaghan MDM, Pineda M, Delgadillo V, Maynou J, Fernandez G, Montoya J, Ruiz-Pesini E, Meavilla S, Neergheen V, García-Cazorla A, Navas P, Hargreaves I, Artuch R.
Montero R, et al. Among authors: o callaghan mdm.
Sci Rep. 2019 Jan 28;9(1):793. doi: 10.1038/s41598-018-37542-2.
Sci Rep. 2019.
PMID: 30692599
Free PMC article.
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Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R.
Mingirulli N, et al.
J Inherit Metab Dis. 2020 Mar;43(2):297-308. doi: 10.1002/jimd.12156. Epub 2019 Aug 13.
J Inherit Metab Dis. 2020.
PMID: 31339582
Free PMC article.
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A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study.
Colón C, Alvarez JV, Castaño C, Gutierrez-Solana LG, Marquez AM, O'Callaghan M, Sánchez-Valverde F, Yeste C, Couce ML.
Colón C, et al.
Medicine (Baltimore). 2017 May;96(19):e6887. doi: 10.1097/MD.0000000000006887.
Medicine (Baltimore). 2017.
PMID: 28489793
Free PMC article.
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Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
Andrade-Campos M, Alfonso P, Irun P, Armstrong J, Calvo C, Dalmau J, Domingo MR, Barbera JL, Cano H, Fernandez-Galán MA, Franco R, Gracia I, Gracia-Antequera M, Ibañez A, Lendinez F, Madruga M, Martin-Hernández E, O'Callaghan MDM, Del Soto AP, Del Prado YR, Sancho-Val I, Sanjurjo P, Pocovi M, Giraldo P.
Andrade-Campos M, et al. Among authors: o callaghan mdm.
Orphanet J Rare Dis. 2017 May 3;12(1):84. doi: 10.1186/s13023-017-0627-z.
Orphanet J Rare Dis. 2017.
PMID: 28468677
Free PMC article.
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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.
Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M; NPC Registry investigators.
Patterson MC, et al.
Orphanet J Rare Dis. 2015 May 28;10:65. doi: 10.1186/s13023-015-0284-z.
Orphanet J Rare Dis. 2015.
PMID: 26017010
Free PMC article.
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