Detalhe da pesquisa
1.
Rubella virus-associated necrotizing granulomatous inflammation with extensive eyelid, ocular, and orbital involvement.
Pediatr Dermatol
; 40(6): 1107-1111, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37202834
2.
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
J Inherit Metab Dis
; 45(2): 157-168, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34625984
3.
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.
Mol Genet Metab
; 133(3): 231-241, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33985889
4.
A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype.
Mol Genet Metab
; 131(4): 398-404, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33279411
5.
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.
Genet Med
; 21(7): 1652-1656, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30568308
6.
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Nat Genet
; 54(8): 1214-1226, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35864190
7.
A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia.
J Investig Med High Impact Case Rep
; 9: 23247096211014685, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33966472
8.
Substrate specificity combined with stereopromiscuity in glutathione transferase A4-4-dependent metabolism of 4-hydroxynonenal.
Biochemistry
; 49(7): 1541-8, 2010 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20085333
9.
Glutathione transferase A4-4 resists adduction by 4-hydroxynonenal.
Arch Biochem Biophys
; 504(2): 182-9, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20836986
10.
Unusual Neuroimaging in a Case of Rapidly Progressive Juvenile-Onset Krabbe Disease.
J Child Neurol
; 35(10): 649-653, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32484059
11.
Structural analysis of a glutathione transferase A1-1 mutant tailored for high catalytic efficiency with toxic alkenals.
Biochemistry
; 48(32): 7698-704, 2009 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19618965