Detalhe da pesquisa
1.
Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report.
Neuropathology
; 37(6): 586-590, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28815739
2.
Hepatorenal Tyrosinemia in Mexico: A Call to Action.
Adv Exp Med Biol
; 959: 147-156, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28755193
3.
Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico.
Ann Hepatol
; 13(2): 265-72, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24552869
4.
A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism.
Int J Neonatal Screen
; 9(4)2023 Oct 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37873850
5.
Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency.
Clin Biochem
; 109-110: 64-73, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36089067
6.
Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening.
Orphanet J Rare Dis
; 16(1): 103, 2021 02 26.
Artigo
Inglês
| MEDLINE | ID: mdl-33637102
7.
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
Genes (Basel)
; 12(11)2021 10 23.
Artigo
Inglês
| MEDLINE | ID: mdl-34828281
8.
Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.
Mol Genet Genomic Med
; 7(12): e937, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31568711
9.
Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.
Genet Test
; 12(3): 409-14, 2008 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-18752449
10.
In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.
Clin Chim Acta
; 483: 33-38, 2018 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-29673582
11.
Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico.
Brain Dev
; 40(7): 530-536, 2018 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-29685341
12.
[Increased mortality and disability in a cohort of Mexican children with maple syrup urine disease]. / Elevada mortalidad y discapacidad en niños mexicanos con enfermedad de orina con olor a jarabe de arce (EOJA).
Gac Med Mex
; 143(3): 197-201, 2007.
Artigo
Espanhol
| MEDLINE | ID: mdl-17722447
13.
Importance of Studying Older Siblings of Patients Identified by Newborn Screening: a Single-Center Experience in Mexico
J. inborn errors metab. screen
; 9: e20210001, 2021. tab, graf
Artigo
Inglês
|
LILACS-Express
| ID: biblio-1250217
14.
[GASTROSTOMY POSITIVELY AFFECTS NUTRITIONAL STATUS AND DIMINISHES HOSPITAL DAYS IN PATIENTS WITH INBORN ERRORS OF METABOLISM]. / LA GASTROSTOMÍA AFECTA POSITIVAMENTE AL ESTADO NUTRICIONAL Y DISMINUYE LOS DÍAS DE HOSPITALIZACIÓN EN PACIENTES CON ERRORES INNATOS DEL METABOLISMO.
Nutr Hosp
; 32(1): 208-14, 2015 Jul 01.
Artigo
Espanhol
| MEDLINE | ID: mdl-26262719
15.
[COMPARISON OF FREE CARNITINE LEVELS WITH NUTRITIONAL STATUS IN INFANTILE NEPHROPATHYC CISTINOSIS PATIENTS]. / COMPARACIÓN ENTRE LOS NIVELES DE CARNITINA LIBRE Y EL ESTADO NUTRICIONAL EN PACIENTES CON CISTINOSIS NEFROPÁTICA INFANTIL.
Nutr Hosp
; 32(6): 2613-7, 2015 Dec 01.
Artigo
Espanhol
| MEDLINE | ID: mdl-26667712
16.
CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis.
J Pediatr Genet
; 2(3): 129-32, 2013 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27625850
17.
Case report of renal tubular acidosis and misdiagnosed. / Informe de casos de acidosis tubular renal y errores de diagnóstico.
Nefrologia
; 36(3): 323-5, 2016.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-26857205
18.
Informe de casos de acidosis tubular renal y errores de diagnóstico / Case report of renal tubular acidosis and misdiagnosed
Nefrología (Madr.)
; 36(3): 323-325, mayo-jun. 2016.
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-153224
19.
La gastrostomía afecta positivamente al estado nutricional y disminuye los días de hospitalización en pacientes con errores innatos del metabolismo / Gastrostomy positively affects nutritional status and diminishes hospital days in patients with inborn errors of metabolism
Nutr. hosp
; 32(1): 208-214, jul. 2015. tab
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-141362
20.
Comparación entre los niveles de carnitina libre y el estado nutricional en pacientes con cistinosis nefropática infantil / Comparison of free carnitine levels with nutritional status in infantile nephropathyc cistinosis patients
Nutr. hosp
; 32(6): 2613-2617, dic. 2015. tab, graf
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-146124