De la Parra A - Search Results

1

Case report: Maternal tyrosinemia type 1a under NTBC treatment with tyrosine- and phenylalanine restricted diet in Chile.

Medina MF, Arias C, Cabello JF, De la Parra A, Valiente A, Castro G, Fuenzalida K, Cornejo V. Medina MF, et al. Among authors: de la parra a. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):1009-1013. doi: 10.1002/ajmg.c.31863. Epub 2020 Dec 10. Am J Med Genet C Semin Med Genet. 2020. PMID: 33300677

2

[Clinical follow up of Chilean patients with tyrosinemia type 1 treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-ciclohexanedione (NTBC)].

Raimann E, Cornejo V, Arias C, Cabello JF, Castro G, Fernández E, de la Parra A. Raimann E, et al. Among authors: de la parra a. Rev Med Chil. 2012 Feb;140(2):169-75. doi: 10.4067/S0034-98872012000200004. Rev Med Chil. 2012. PMID: 22739945 Free article. Spanish.

3

Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.

Medina MF, Castro G, Falcon F, Cabello JF, Faundes V, Ruffato D, Salazar MF, Arias C, Peñaloza F, De La Parra A, Cornejo V. Medina MF, et al. Among authors: de la parra a. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):373-380. doi: 10.1002/ajmg.c.31933. Epub 2021 Jul 21. Am J Med Genet C Semin Med Genet. 2021. PMID: 34288399

4

Propionic acidemia and optic neuropathy: a report of two cases.

Arias C, Raimann E, Peredo P, Cabello JF, Castro G, Valiente A, de la Parra A, Bravo P, Okuma C, Cornejo V. Arias C, et al. Among authors: de la parra a. JIMD Rep. 2014;12:1-4. doi: 10.1007/8904_2013_234. Epub 2013 Jul 2. JIMD Rep. 2014. PMID: 23818179 Free PMC article.

5

Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet.

García MI, de la Parra A, Arias C, Arredondo M, Cabello JF. García MI, et al. Among authors: de la parra a. Mol Genet Metab Rep. 2017 Mar 26;11:12-16. doi: 10.1016/j.ymgmr.2017.01.016. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28377889 Free PMC article.

6

First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU.

de la Parra A, García MI, Hamilton V, Arias C, Cabello JF, Cornejo V. de la Parra A, et al. Mol Genet Metab Rep. 2017 Oct 5;13:90-94. doi: 10.1016/j.ymgmr.2017.09.003. eCollection 2017 Dec. Mol Genet Metab Rep. 2017. PMID: 29021962 Free PMC article.

7

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.

van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, Santra S, De Laet C, Goyens PJ, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Gissen P, Bierau J, van Hasselt PM, Wilcox G, Morris AAM, Jameson EA, de la Parra A, Arias C, Garcia MI, Cornejo V, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, van Spronsen FJ. van Vliet K, et al. Among authors: de la parra a. J Inherit Metab Dis. 2022 Sep;45(5):952-962. doi: 10.1002/jimd.12528. Epub 2022 Jun 30. J Inherit Metab Dis. 2022. PMID: 35722880 Free PMC article.

8

[Phenylketonuria diagnosed during the neonatal period and breast feeding].

Cornejo V, Manríquez V, Colombo M, Mabe P, Jiménez M, De la Parra A, Valiente A, Raimann E. Cornejo V, et al. Among authors: de la parra a. Rev Med Chil. 2003 Nov;131(11):1280-7. Rev Med Chil. 2003. PMID: 14743689 Spanish.

9

Cognitive functioning in mild hyperphenylalaninemia.

de la Parra A, García MI, Waisbren SE, Cornejo V, Raimann E. de la Parra A, et al. Mol Genet Metab Rep. 2015 Oct 29;5:72-75. doi: 10.1016/j.ymgmr.2015.10.009. eCollection 2015 Dec. Mol Genet Metab Rep. 2015. PMID: 28649547 Free PMC article.

10

[Diagnosis and follow up of 23 children with organic acidurias].

Cornejo V, Colombo M, Durán G, Mabe P, Jiménez M, De la Parra A, Valiente A, Raimann E. Cornejo V, et al. Among authors: de la parra a. Rev Med Chil. 2002 Mar;130(3):259-66. Rev Med Chil. 2002. PMID: 12043367 Spanish.

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