Detalhe da pesquisa
1.
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
J Neurol Neurosurg Psychiatry
; 95(2): 103-113, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041679
2.
Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases.
Mol Genet Metab
; 140(3): 107683, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37597335
3.
Attitudes Toward Engagement in Citizen Science Increase Self-Related, Ecology-Related, and Motivation-Related Outcomes in an Urban Wildlife Project.
Bioscience
; 73(3): 206-219, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36936382
4.
Spatiotemporal interactions of a novel mesocarnivore community in an urban environment before and during SARS-CoV-2 lockdown.
J Anim Ecol
; 91(2): 367-380, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34775595
5.
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise.
J Inherit Metab Dis
; 44(1): 9-21, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32412122
6.
Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria.
J Inherit Metab Dis
; 44(6): 1330-1342, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34297429
7.
Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells.
J Inherit Metab Dis
; 44(4): 1039-1050, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33661535
8.
Successful pregnancy in maple syrup urine disease: a case report and review of the literature.
Nutr J
; 17(1): 51, 2018 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29753318
9.
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
10.
A systematic review of metabolomic findings in adult and pediatric renal disease.
Clin Biochem
; 123: 110703, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38097032
11.
"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
Proteomics Clin Appl
; 18(2): e2300040, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37876147
12.
Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum.
Genes (Basel)
; 14(7)2023 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510312
13.
Altered markers of mitochondrial function in adults with autism spectrum disorder.
Autism Res
; 16(11): 2125-2138, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37715660
14.
The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria.
Sci Rep
; 13(1): 7677, 2023 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37169781
15.
Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study.
Mol Autism
; 14(1): 44, 2023 11 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37978557
16.
Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrate.
JIMD Rep
; 63(6): 521-523, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341170
17.
I'm fine with collecting data: Engagement profiles differ depending on scientific activities in an online community of a citizen science project.
PLoS One
; 17(10): e0275785, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36215274
18.
Evaluating the potential of urban areas for bat conservation with citizen science data.
Environ Pollut
; 297: 118785, 2022 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34979170
19.
Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib.
JIMD Rep
; 63(4): 303-308, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822091
20.
Analysis of S-Adenosylmethionine and S-Adenosylhomocysteine: Method Optimisation and Profiling in Healthy Adults upon Short-Term Dietary Intervention.
Metabolites
; 12(5)2022 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35629877