Detalhe da pesquisa
1.
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
J Inherit Metab Dis
; 45(5): 952-962, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35722880
2.
Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.
Am J Med Genet C Semin Med Genet
; 187(3): 373-380, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34288399
3.
Case report: Maternal tyrosinemia type 1a under NTBC treatment with tyrosine- and phenylalanine restricted diet in Chile.
Am J Med Genet C Semin Med Genet
; 184(4): 1009-1013, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33300677
4.
[Clinical follow up of Chilean patients with tyrosinemia type 1 treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-ciclohexanedione (NTBC)]. / Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC).
Rev Med Chil
; 140(2): 169-75, 2012 Feb.
Artigo
Espanhol
| MEDLINE | ID: mdl-22739945
5.
Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation.
Mol Genet Metab Rep
; 11: 54-58, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28491816
6.
First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU.
Mol Genet Metab Rep
; 13: 90-94, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29021962
7.
Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet.
Mol Genet Metab Rep
; 11: 12-16, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28377889
8.
Propionic acidemia and optic neuropathy: a report of two cases.
JIMD Rep
; 12: 1-4, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-23818179
9.
Cognitive functioning in mild hyperphenylalaninemia.
Mol Genet Metab Rep
; 5: 72-75, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28649547
10.
Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC) / Clinical follow up of Chilean patients with tyrosinemia type 1 treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-ciclohexanedione (NTBC)
Rev. méd. Chile
; 140(2): 169-175, feb. 2012. graf, tab
Artigo
Espanhol
| LILACS | ID: lil-627623
11.
[Diagnosis and follow up of 23 children with organic acidurias]. / Diagnóstico y seguimiento de 23 niños con acidurias orgánicas.
Rev Med Chil
; 130(3): 259-66, 2002 Mar.
Artigo
Espanhol
| MEDLINE | ID: mdl-12043367
12.
[Phenylketonuria diagnosed during the neonatal period and breast feeding]. / Fenilquetonuria de diagnóstico neonatal y lactancia materna.
Rev Med Chil
; 131(11): 1280-7, 2003 Nov.
Artigo
Espanhol
| MEDLINE | ID: mdl-14743689