Cabello JF - Search Results

1

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. Among authors: cabello jf. Genet Mol Biol. 2014 Jun;37(2):315-29. doi: 10.1590/s1415-47572014000300003. Genet Mol Biol. 2014. PMID: 25071396 Free PMC article. Review.

2

Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world.

Muñoz-Rojas MV, Bay L, Sanchez L, van Kuijck M, Ospina S, Cabello JF, Martins AM. Muñoz-Rojas MV, et al. Among authors: cabello jf. J Inherit Metab Dis. 2011 Oct;34(5):1029-37. doi: 10.1007/s10545-011-9336-2. Epub 2011 May 4. J Inherit Metab Dis. 2011. PMID: 21541721 Free PMC article.

3

[Gaucher disease in Latin America. A report from the Gaucher Disease International Registry and the Latin American Group for Gaucher Disease].

Drelichman G, Linares A, Villalobos J, Cabello JF, Kerstenetzky M, Kohan RM, Martins AM. Drelichman G, et al. Among authors: cabello jf. Medicina (B Aires). 2012;72(4):273-82. Medicina (B Aires). 2012. PMID: 22892077 Free article. Spanish.

4

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.

5

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.

6

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: cabello jf. 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

7

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

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

8

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.

9

[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.

10

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

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

Text availability

Article attribute

Article type

Publication date

20 results

Search Page