Silao CLT - Search Results

1

Functional analysis of GALT variants found in classic galactosemia patients using a novel cell-free translation method.

Canson DM, Silao CLT, Caoili SEC. Canson DM, et al. Among authors: silao clt. JIMD Rep. 2019 May 9;48(1):60-66. doi: 10.1002/jmd2.12037. eCollection 2019 Jul. JIMD Rep. 2019. PMID: 31392114 Free PMC article.

2

Mutational analysis of the GALT gene in Filipino patients.

Estrada SC, Canson DM, Silao CL. Estrada SC, et al. Kobe J Med Sci. 2013 Aug 9;59(3):E106-11. Kobe J Med Sci. 2013. PMID: 24045215 Free article.

3

Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.

Chiong MA, Canson DM, Abacan MA, Baluyot MM, Cordero CP, Silao CL. Chiong MA, et al. Orphanet J Rare Dis. 2017 Jan 11;12(1):7. doi: 10.1186/s13023-016-0558-0. Orphanet J Rare Dis. 2017. PMID: 28077157 Free PMC article.

4

Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.

Silao CL, Fabella TD, Rama KI, Estrada SC. Silao CL, et al. Pediatr Int. 2015 Oct;57(5):884-7. doi: 10.1111/ped.12666. Epub 2015 Sep 14. Pediatr Int. 2015. PMID: 25939784

5

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.

Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AA, Ramirez-Farias C, Schweitzer-Krantz S, Silao CL, Vela-Amieva M, Waisbren S, Fridovich-Keil JL. Jumbo-Lucioni PP, et al. J Inherit Metab Dis. 2012 Nov;35(6):1037-49. doi: 10.1007/s10545-012-9477-y. Epub 2012 Mar 27. J Inherit Metab Dis. 2012. PMID: 22450714 Free PMC article.

6

Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.

Silao CL, Padilla CD, Matsuo M. Silao CL, et al. Pediatr Int. 2008 Jun;50(3):312-4. doi: 10.1111/j.1442-200X.2008.02610.x. Pediatr Int. 2008. PMID: 18533943

7

Molecular basis of glucose-6-phosphate dehydrogenase deficiency among Filipinos.

Silao CL, Shirakawa T, Nishiyama K, Padilla C, Matsuo M. Silao CL, et al. Pediatr Int. 1999 Apr;41(2):138-41. doi: 10.1046/j.1442-200x.1999.4121035.x. Pediatr Int. 1999. PMID: 10221015

8

Perspectives on the Use of Telegenetics Services in the Philippines.

Silao CLT. Silao CLT. Acta Med Philipp. 2023 Aug 29;57(8):3-4. doi: 10.47895/amp.v57i8.8572. eCollection 2023. Acta Med Philipp. 2023. PMID: 39484191 Free PMC article. No abstract available.

9

A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease.

Silao CL, Padilla CD, Matsuo M. Silao CL, et al. Mol Genet Metab. 2004 Feb;81(2):100-4. doi: 10.1016/j.ymgme.2003.10.006. Mol Genet Metab. 2004. PMID: 14741190

10

A Child's Nutrition and Epigenetics.

Silao CLT. Silao CLT. Nestle Nutr Inst Workshop Ser. 2023;97:1-10. doi: 10.1159/000528991. Epub 2023 Apr 6. Nestle Nutr Inst Workshop Ser. 2023. PMID: 37023732 Review.

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

17 results

Search Page

Filters