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Year | Number of Results |
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2020 | 1 |
2021 | 1 |
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Page 1
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Sci Transl Med. 2024 Jan 10;16(729):eadh1334. doi: 10.1126/scitranslmed.adh1334. Epub 2024 Jan 10.
Sci Transl Med. 2024.
PMID: 38198573
Free PMC article.
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.
Medeiros AM, Alves AC, Miranda B, Chora JR, Bourbon M; investigators of the Portuguese FH Study.
Medeiros AM, et al.
J Lipid Res. 2024 Feb;65(2):100490. doi: 10.1016/j.jlr.2023.100490. Epub 2023 Dec 18.
J Lipid Res. 2024.
PMID: 38122934
Free PMC article.
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Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection.
Lipari Pinto P, Florindo C, Janeiro P, Santos RL, Mexia S, Rocha H, Tavares de Almeida I, Vilarinho L, Gaspar A.
Lipari Pinto P, et al.
Nutrients. 2022 Oct 20;14(20):4397. doi: 10.3390/nu14204397.
Nutrients. 2022.
PMID: 36297083
Free PMC article.
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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.
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.
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Glutaric Acidemia Type 1: Diagnosis, Clinical features, and Outcome in a Portuguese Cohort.
Pinto PL, Câmara B, Florindo C, Loureiro RS, Jardim I, Sousa C, Vilarinho L, Janeiro P, Tavares de Almeida I, Gaspar A.
Pinto PL, et al.
Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914122946. Online ahead of print.
Endocr Metab Immune Disord Drug Targets. 2023.
PMID: 37711119
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Response to the Letter to the Editor: Inborn Errors in Pediatric Intensive Care Unit: Much More to Understand.
Lipari Pinto P, Shchomak Z, Boto L, Janeiro P, Moldovan O, Abecasis F, Gaspar A, Vieira M.
Lipari Pinto P, et al.
J Pediatr Intensive Care. 2021 Jun 29;12(3):243. doi: 10.1055/s-0041-1731023. eCollection 2023 Sep.
J Pediatr Intensive Care. 2021.
PMID: 37565015
Free PMC article.
No abstract available.
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