Detalhe da pesquisa
1.
Novel cystathionine ß-synthase gene mutations in a Filipino patient with classic homocystinuria.
Pediatr Int
; 57(5): 884-7, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25939784
2.
A Child's Nutrition and Epigenetics.
Nestle Nutr Inst Workshop Ser
; 97: 1-10, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37023732
3.
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.
J Inherit Metab Dis
; 35(6): 1037-49, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22450714
4.
Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries.
J Pers Med
; 12(4)2022 Mar 31.
Artigo
Inglês
| MEDLINE | ID: mdl-35455667
5.
PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis.
Hum Genet
; 127(4): 411-9, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20066438
6.
Functional analysis of GALT variants found in classic galactosemia patients using a novel cell-free translation method.
JIMD Rep
; 48(1): 60-66, 2019 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-31392114
7.
Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.
Pediatr Int
; 50(3): 312-4, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18533943
8.
Editorial: Insights in thalassemia: from genomics to clinical practice.
Front Pediatr
; 11: 1222946, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37520048
9.
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.
Orphanet J Rare Dis
; 12(1): 7, 2017 01 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28077157
10.
Mutational analysis of the GALT gene in Filipino patients.
Kobe J Med Sci
; 59(3): E106-11, 2013 Aug 09.
Artigo
Inglês
| MEDLINE | ID: mdl-24045215
11.
Genetic polymorphisms in CYP1A1, GSTM1, GSTP1, GSTT1, NAT1 and NAT2 and oral cavity cancer risk among Filipinos
Acta Medica Philippina
; : 4-11, 2013.
Artigo
Inglês
| WPRIM | ID: wpr-633687
12.
Genotype-phenotype correlations in Filipino patients with type 3 gaucher disease
Acta Medica Philippina
; : 30-34, 2011.
Artigo
Inglês
| WPRIM | ID: wpr-631845
13.
Association of glutathione-S-transferase M1,P1, and T1 gene polymorphisms with treatment response in childhood acute lymphocytic leukemia
Acta Medica Philippina
; : 75-80, 2016.
Artigo
Inglês
| WPRIM | ID: wpr-632867
14.
A master of science in genetic counseling program in the Philippines
Acta Medica Philippina
; : 7-9, 2011.
Artigo
Inglês
| WPRIM | ID: wpr-631842
15.
Characterization of mutations and polymorphisms in the G6PD among Filipino newborns with glucose-6-phosphate dehydrogenase deficiency
Acta Medica Philippina
; : 53-57, 2011.
Artigo
Inglês
| WPRIM | ID: wpr-631849
16.
A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease.
Mol Genet Metab
; 81(2): 100-4, 2004 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-14741190
17.
Glucose-6-phosphate dehydrogenase deficiency in Filipino neonates with jaundice
Acta Medica Philippina
; : 22-25, 2009.
Artigo
Inglês
| WPRIM | ID: wpr-633837
18.
Mutations of the phenylalanine hydroxylase (PAH) gene in Filipino patients with phenylketonuria
Acta Medica Philippina
; : 36-39, 2009.
Artigo
Inglês
| WPRIM | ID: wpr-633841
19.
Mutations of the steroid 21-hydroxylase gene among Filipino patients with congenital adrenal hyperplasia
Acta Medica Philippina
; : 32-35, 2009.
Artigo
Inglês
| WPRIM | ID: wpr-633840