Cabello JF - Search Results

1

[What should the paediatrician know about hyperphenylalaninaemia?].

Bravo P, Raimann E, Cabello JF, Arias C, Peredo P, Castro G, Hamilton V, Campo K, Cornejo V. Bravo P, et al. Among authors: cabello jf. Rev Chil Pediatr. 2015 May-Jun;86(3):214-8. doi: 10.1016/j.rchipe.2015.06.006. Epub 2015 Jul 6. Rev Chil Pediatr. 2015. PMID: 26363863 Free article. Spanish.

2

[Lipids composition diet in phenylketonuric children with early diagnosis].

Cornejo V, Concha M, Cabello JF, Raimann E. Cornejo V, et al. Among authors: cabello jf. Arch Latinoam Nutr. 2005 Dec;55(4):332-5. Arch Latinoam Nutr. 2005. PMID: 16640195 Spanish.

3

Past, present and future of newborn screening in Chile.

Cornejo V, Raimann E, Cabello JF, Valiente A, Becerra C, Opazo M, Colombo M. Cornejo V, et al. Among authors: cabello jf. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S301-6. doi: 10.1007/s10545-010-9165-8. Epub 2010 Aug 4. J Inherit Metab Dis. 2010. PMID: 20683669

4

[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: cabello jf. Rev Med Chil. 2012 Feb;140(2):169-75. doi: 10.4067/S0034-98872012000200004. Rev Med Chil. 2012. PMID: 22739945 Free article. Spanish.

5

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: cabello jf. JIMD Rep. 2014;12:1-4. doi: 10.1007/8904_2013_234. Epub 2013 Jul 2. JIMD Rep. 2014. PMID: 23818179 Free PMC article.

6

Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD).

Campo K, Castro G, Hamilton V, Cabello JF, Raimann E, Arias C, Cornejo V. Campo K, et al. Among authors: cabello jf. JIMD Rep. 2016;26:69-76. doi: 10.1007/8904_2015_500. Epub 2015 Oct 13. JIMD Rep. 2016. PMID: 26458887 Free PMC article.

7

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: cabello jf. 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.

8

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. Among authors: cabello jf. 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.

9

Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.

Hamilton V, Santa María L, Fuenzalida K, Morales P, Desviat LR, Ugarte M, Pérez B, Cabello JF, Cornejo V. Hamilton V, et al. Among authors: cabello jf. JIMD Rep. 2018;42:71-77. doi: 10.1007/8904_2017_85. Epub 2017 Dec 30. JIMD Rep. 2018. PMID: 29288420 Free PMC article.

10

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: cabello jf. 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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

21 results

Search Page

Filters