Detalhe da pesquisa
1.
Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome.
Front Pediatr;
12: 1278047, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38445077
2.
Delayed-Onset Transient Hyperinsulinism in Infants with Very Low and Extremely Low Birth Weights: A Cohort Study.
J Pediatr;
258: 113399, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37019330
3.
Mesenchymal stem cells improve redox homeostasis and mitochondrial respiration in fibroblast cell lines with pathogenic MT-ND3 and MT-ND6 variants.
Stem Cell Res Ther;
13(1): 256, 2022 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35715829
4.
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
J Med Genet;
59(9): 878-887, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34656997
5.
TMEM70 functions in the assembly of complexes I and V.
Biochim Biophys Acta Bioenerg;
1861(8): 148202, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275929
6.
Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia.
Genet Med;
22(3): 654-655, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31641285
7.
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.
J Pediatr;
196: 309-313.e3, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395179
8.
NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.
Eur J Hum Genet;
25(11): 1273-1277, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28853723
9.
Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.
Stem Cell Res Ther;
8(1): 150, 2017 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28646906
10.
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.
Hum Mutat;
38(6): 692-703, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28247525
11.
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.
Mol Genet Metab;
120(3): 243-246, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27986404
12.
The Assembly Pathway of Mitochondrial Respiratory Chain Complex I.
Cell Metab;
25(1): 128-139, 2017 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27720676
13.
Neonatal encephalocardiomyopathy caused by mutations in VARS2.
Metab Brain Dis;
32(1): 267-270, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27502409
14.
The many faces of paediatric mitochondrial disease on neuroimaging.
Childs Nerv Syst;
32(11): 2077-2083, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27449766
15.
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.
Brain;
139(Pt 2): 346-54, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26626369
16.
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.
Neurogenetics;
16(4): 319-23, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25797485
17.
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
Neurogenetics;
16(3): 237-40, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25663021
18.
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
Hum Mutat;
36(1): 34-8, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25339201
19.
Malonic aciduria: long-term follow-up of new patients detected by newborn screening.
Eur J Pediatr;
173(12): 1719-22, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25233985
20.
A guide to diagnosis and treatment of Leigh syndrome.
J Neurol Neurosurg Psychiatry;
85(3): 257-65, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23772060