Detalhe da pesquisa
1.
Mitochondrial proteome research: the road ahead.
Nat Rev Mol Cell Biol
; 25(1): 65-82, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37773518
2.
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.
Hum Mol Genet
; 32(17): 2717-2734, 2023 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369025
3.
How guideline development has informed clinical research for organic acidurias (et vice versa).
J Inherit Metab Dis
; 46(3): 520-535, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36591944
4.
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
Hum Genet
; 141(7): 1253-1267, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34796408
5.
Recovery of enzyme activity in biotinidase deficient individuals during early childhood.
J Inherit Metab Dis
; 45(3): 605-620, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35195902
6.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
J Inherit Metab Dis
; 44(3): 566-592, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33595124
7.
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.
Mol Genet Metab
; 128(4): 444-451, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31648943
8.
Liver neoplasms in methylmalonic aciduria: An emerging complication.
J Inherit Metab Dis
; 42(5): 793-802, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260114
9.
New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria.
Mol Genet Metab
; 124(4): 266-277, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29934063
10.
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
J Biol Chem
; 291(39): 20563-73, 2016 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519416
11.
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
Hum Mutat
; 37(8): 745-54, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27167370
12.
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
Hum Mutat
; 35(12): 1449-58, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125334
13.
Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency.
Mol Genet Metab Rep
; 39: 101066, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425868
14.
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Nat Metab
; 5(1): 80-95, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36717752
15.
Fast and Deep Phosphoproteome Analysis with the Orbitrap Astral Mass Spectrometer.
bioRxiv
; 2023 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38045259
16.
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism.
Mol Genet Metab Rep
; 31: 100876, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35762020
17.
Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?
JIMD Rep
; 57(1): 58-66, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473341
18.
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Neurol Genet
; 7(3): e597, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34056100
19.
An expanding spectrum of complications in isolated methylmalonic aciduria.
J Mother Child
; 24(2): 9-13, 2020 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33554499
20.
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.
Nat Commun
; 11(1): 970, 2020 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32080200