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Page 1
Leukocyte Imbalances in Mucopolysaccharidoses Patients.
Biomedicines. 2023 Jun 13;11(6):1699. doi: 10.3390/biomedicines11061699.
Biomedicines. 2023.
PMID: 37371793
Free PMC article.
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Encarnação M, Coutinho MF, Silva L, Ribeiro D, Ouesleti S, Campos T, Santos H, Martins E, Cardoso MT, Vilarinho L, Alves S.
Encarnação M, et al. Among authors: cardoso mt.
Int J Mol Sci. 2020 Sep 1;21(17):6355. doi: 10.3390/ijms21176355.
Int J Mol Sci. 2020.
PMID: 32883051
Free PMC article.
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NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.
Encarnação M, Coutinho MF, Cho SM, Cardoso MT, Ribeiro I, Chaves P, Santos JI, Quelhas D, Lacerda L, Leão Teles E, Futerman AH, Vilarinho L, Alves S.
Encarnação M, et al. Among authors: cardoso mt.
Mol Genet Genomic Med. 2020 Nov;8(11):e1451. doi: 10.1002/mgg3.1451. Epub 2020 Sep 15.
Mol Genet Genomic Med. 2020.
PMID: 32931663
Free PMC article.
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Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
Oliveira JP, Nowak A, Barbey F, Torres M, Nunes JP, Teixeira-E-Costa F, Carvalho F, Sampaio S, Tavares I, Pereira O, Soares AL, Carmona C, Cardoso MT, Jurca-Simina IE, Spada M, Ferreira S, Germain DP.
Oliveira JP, et al. Among authors: cardoso mt.
Eur J Med Genet. 2020 Feb;63(2):103703. doi: 10.1016/j.ejmg.2019.103703. Epub 2019 Jun 11.
Eur J Med Genet. 2020.
PMID: 31200018
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Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
Posset R, Garcia-Cazorla A, Valayannopoulos V, Leão Teles E, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium.
Posset R, et al.
J Inherit Metab Dis. 2018 Jul;41(4):743-744. doi: 10.1007/s10545-017-0117-4.
J Inherit Metab Dis. 2018.
PMID: 29330779
Free article.
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