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Recurrent acute kidney injury and rhabdomyolysis: Answers.
Durão F, Valério P, Marques B, Silva RG, Janeiro P, Esteves da Silva JE. Durão F, et al. Among authors: janeiro p. Pediatr Nephrol. 2021 Dec;36(12):4047-4049. doi: 10.1007/s00467-021-05188-4. Epub 2021 Jul 12. Pediatr Nephrol. 2021. PMID: 34251489 No abstract available.
Recurrent acute kidney injury and rhabdomyolysis: Questions.
Durão F, Valério P, Marques B, Silva RG, Janeiro P, Esteves da Silva JE. Durão F, et al. Among authors: janeiro p. Pediatr Nephrol. 2021 Dec;36(12):4045-4046. doi: 10.1007/s00467-021-05170-0. Epub 2021 Jul 12. Pediatr Nephrol. 2021. PMID: 34251490 No abstract available.
Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit.
Lipari P, Shchomak Z, Boto L, Janeiro P, Moldovan O, Abecasis F, Gaspar A, Vieira M. Lipari P, et al. Among authors: janeiro p. J Pediatr Intensive Care. 2020 Dec 15;11(3):183-192. doi: 10.1055/s-0040-1721738. eCollection 2022 Sep. J Pediatr Intensive Care. 2020. PMID: 35928044 Free PMC article.
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Nogueira C, Silva L, Pereira C, Vieira L, Leão Teles E, Rodrigues E, Campos T, Janeiro P, Gaspar A, Dupont J, Bandeira A, Martins E, Magalhães M, Sequeira S, Vieira JP, Santos H, Vilarinho S, Vilarinho L. Nogueira C, et al. Among authors: janeiro p. Mitochondrion. 2019 Jul;47:309-317. doi: 10.1016/j.mito.2019.02.006. Epub 2019 Mar 1. Mitochondrion. 2019. PMID: 30831263
NGLY1 deficiency-A rare congenital disorder of deglycosylation.
Lipari Pinto P, Machado C, Janeiro P, Dupont J, Quintas S, Sousa AB, Gaspar A. Lipari Pinto P, et al. Among authors: janeiro p. JIMD Rep. 2020 Apr 10;53(1):2-9. doi: 10.1002/jmd2.12108. eCollection 2020 May. JIMD Rep. 2020. PMID: 32395402 Free PMC article.
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, Sequeira S, Ferreira AC, Teles EL, Rodrigues E, Fortuna AM, Mendonça C, Fernandes HC, Medeira A, Gaspar A, Janeiro P, Oliveira A, Laranjeira F, Ribeiro I, Souche E, Race V, Keldermans L, Matthijs G, Jaeken J. Quelhas D, et al. Among authors: janeiro p. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551
30 results