Juan F. Cabello - Search Results

Year	Number of Results
2005	1
2007	1
2011	1
2012	2
2013	1
2014	2
2015	2
2016	1
2017	2
2020	1
2021	3
2023	1
2024	0

1

[Hepatic glycogen storage diseases: Symptoms, management and associated mutations].

Grez C, Araya M, Cabello JF. Grez C, et al. Andes Pediatr. 2021 Jun;92(3):461-469. doi: 10.32641/andespediatr.v92i3.2551. Andes Pediatr. 2021. PMID: 34479255 Free article. Review. Spanish.

2

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.

Giugliani R, Villarreal ML, Valdez CA, Hawilou AM, Guelbert N, Garzón LN, Martins AM, Acosta A, Cabello JF, Lemes A, Santos ML, Amartino H. Giugliani R, et al. Genet Mol Biol. 2014 Jun;37(2):315-29. doi: 10.1590/s1415-47572014000300003. Genet Mol Biol. 2014. PMID: 25071396 Free PMC article. Review.

3

[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. 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.

4

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. 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

5

Muscle and Bone Health in Young Chilean Adults with Phenylketonuria and Different Degrees of Compliance with the Phenylalanine Restricted Diet.

Rojas-Agurto E, Leal-Witt MJ, Arias C, Cabello JF, Bunout D, Cornejo V. Rojas-Agurto E, et al. Nutrients. 2023 Jun 28;15(13):2939. doi: 10.3390/nu15132939. Nutrients. 2023. PMID: 37447265 Free PMC article.

6

Expanded Newborn Screening and Genomic Sequencing in Latin America and the Resulting Social Justice and Ethical Considerations.

Cabello JF, Novoa F, Huff HV, Colombo M. Cabello JF, et al. Int J Neonatal Screen. 2021 Jan 21;7(1):6. doi: 10.3390/ijns7010006. Int J Neonatal Screen. 2021. PMID: 33494287 Free PMC article.

7

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

8

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. JIMD Rep. 2016;26:69-76. doi: 10.1007/8904_2015_500. Epub 2015 Oct 13. JIMD Rep. 2016. PMID: 26458887 Free PMC article.

9

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

10

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. 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.

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 NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

16 results

Results by year

Search Page

Filters

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year