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Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency.
Biochimie. 2021 Apr;183:78-88. doi: 10.1016/j.biochi.2021.02.007. Epub 2021 Feb 12.
Biochimie. 2021.
PMID: 33588022
Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.
Pinheiro A, Silva MJ, Pavlu-Pereira H, Florindo C, Barroso M, Marques B, Correia H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I.
Pinheiro A, et al. Among authors: pavlu pereira h.
Gene. 2016 Oct 15;591(2):417-24. doi: 10.1016/j.gene.2016.06.041. Epub 2016 Jun 22.
Gene. 2016.
PMID: 27343776
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Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family.
Pinheiro A, Silva MJ, Pavlu-Pereira H, Florindo C, Barroso M, Marques B, Correia H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I.
Pinheiro A, et al. Among authors: pavlu pereira h.
Data Brief. 2016 Aug 20;9:68-77. doi: 10.1016/j.dib.2016.08.029. eCollection 2016 Dec.
Data Brief. 2016.
PMID: 27656664
Free PMC article.
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Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Pavlu-Pereira H, Silva MJ, Florindo C, Sequeira S, Ferreira AC, Duarte S, Rodrigues AL, Janeiro P, Oliveira A, Gomes D, Bandeira A, Martins E, Gomes R, Soares S, Tavares de Almeida I, Vicente JB, Rivera I.
Pavlu-Pereira H, et al.
Orphanet J Rare Dis. 2020 Oct 22;15(1):298. doi: 10.1186/s13023-020-01586-3.
Orphanet J Rare Dis. 2020.
PMID: 33092611
Free PMC article.
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Evaluation of Mitochondrial Function on Pyruvate Dehydrogenase Complex Deficient Patient-derived Cell Lines.
Pavlú-Pereira H, Florindo C, Carvalho F, Tavares de Almeida I, Vicente J, Morais V, Rivera I.
Pavlú-Pereira H, et al.
Endocr Metab Immune Disord Drug Targets. 2023 Oct 11. doi: 10.2174/0118715303280072231004082458. Online ahead of print.
Endocr Metab Immune Disord Drug Targets. 2023.
PMID: 37861030
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Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.
Pavlů-Pereira H, Asfaw B, Poupctová H, Ledvinová J, Sikora J, Vanier MT, Sandhoff K, Zeman J, Novotná Z, Chudoba D, Elleder M.
Pavlů-Pereira H, et al.
J Inherit Metab Dis. 2005;28(2):203-27. doi: 10.1007/s10545-005-5671-5.
J Inherit Metab Dis. 2005.
PMID: 15877209
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Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients.
Sikora J, Pavlu-Pereira H, Elleder M, Roelofs H, Wevers RA.
Sikora J, et al. Among authors: pavlu pereira h.
Ann Hum Genet. 2003 Jan;67(Pt 1):63-70. doi: 10.1046/j.1469-1809.2003.00009.x.
Ann Hum Genet. 2003.
PMID: 12556236
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