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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 3
2004 5
2005 3
2006 3
2007 7
2008 5
2009 5
2010 7
2011 9
2012 4
2013 6
2014 4
2015 3
2016 2
2017 4
2018 8
2019 6
2020 10
2021 8
2022 7
2023 10
2024 3

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107 results

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Page 1
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Huemer M, et al. Among authors: vilarinho l. J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. J Inherit Metab Dis. 2017. PMID: 27905001 Free PMC article. Review.
Molecular basis of Leigh syndrome: a current look.
Schubert Baldo M, Vilarinho L. Schubert Baldo M, et al. Among authors: vilarinho l. Orphanet J Rare Dis. 2020 Jan 29;15(1):31. doi: 10.1186/s13023-020-1297-9. Orphanet J Rare Dis. 2020. PMID: 31996241 Free PMC article. Review.
Reply.
Cruz S, Taipa R, Nogueira C, Melo-Pires M, Vilarinho L. Cruz S, et al. Among authors: vilarinho l. Muscle Nerve. 2017 Nov;56(5):E49. doi: 10.1002/mus.25650. Epub 2017 Apr 12. Muscle Nerve. 2017. PMID: 28342213 No abstract available.
[Portuguese Newborn Screening Program.].
Rocha H, Marcão A, Sousa C, Fonseca H, Lopes L, Carvalho I, Vilarinho L. Rocha H, et al. Among authors: vilarinho l. Rev Esp Salud Publica. 2021 Jan 26;95:e202101005. Rev Esp Salud Publica. 2021. PMID: 33496269 Free article. Spanish.
SERAC1 Deficiency- A New Phenotype.
Martins E, Durães J, Nogueira C, Gomes J, Vilarinho L, Macário C. Martins E, et al. Among authors: vilarinho l. Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914114456. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37711114
Syndromes associated with mitochondrial DNA depletion.
Nogueira C, Almeida LS, Nesti C, Pezzini I, Videira A, Vilarinho L, Santorelli FM. Nogueira C, et al. Among authors: vilarinho l. Ital J Pediatr. 2014 Apr 3;40:34. doi: 10.1186/1824-7288-40-34. Ital J Pediatr. 2014. PMID: 24708634 Free PMC article. Review.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Kaiyrzhanov R, et al. Among authors: vilarinho l. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007. Am J Hum Genet. 2022. PMID: 36055214 Free PMC article.
European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.
Munck A, Berger DO, Southern KW, Carducci C, de Winter-de Groot KM, Gartner S, Kashirskaya N, Linnane B, Proesmans M, Sands D, Sommerburg O, Castellani C, Barben J; European CF Society Neonatal Screening Working Group (ECFS NSWG). Munck A, et al. J Cyst Fibros. 2023 May;22(3):484-495. doi: 10.1016/j.jcf.2022.09.012. Epub 2022 Nov 10. J Cyst Fibros. 2023. PMID: 36372700
Hyperammonaemic encephalopathy in a teenage girl.
Magalhães T, Campos T, Rodrigues E, Vasconcelos C, Fontoura M, Vilarinho L, Leão-Teles E. Magalhães T, et al. Among authors: vilarinho l. J Paediatr Child Health. 2022 Jul;58(7):1270-1271. doi: 10.1111/jpc.15824. Epub 2021 Nov 2. J Paediatr Child Health. 2022. PMID: 34725893 No abstract available.
Diagnosis across a cohort of "atypical" atypical and complex parkinsonism.
Malaquias MJ, Igreja L, Nogueira C, Pereira C, Vilarinho L, Quelhas D, Freixo JP, Oliveira J, Magalhães M. Malaquias MJ, et al. Among authors: vilarinho l. Parkinsonism Relat Disord. 2023 Jun;111:105408. doi: 10.1016/j.parkreldis.2023.105408. Epub 2023 Apr 20. Parkinsonism Relat Disord. 2023. PMID: 37105015
107 results