Detalhe da pesquisa
1.
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
J Inherit Metab Dis
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38627985
2.
N-Acetylglutamate and N-acetylmethionine compromise mitochondrial bioenergetics homeostasis and glutamate oxidation in brain of developing rats: Potential implications for the pathogenesis of ACY1 deficiency.
Biochem Biophys Res Commun
; 684: 149123, 2023 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37871522
3.
Biomarkers for drug development in propionic and methylmalonic acidemias.
J Inherit Metab Dis
; 45(2): 132-143, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35038174
4.
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
J Inherit Metab Dis
; 45(3): 445-455, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35174513
5.
3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.
J Inherit Metab Dis
; 44(6): 1323-1329, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176136
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.
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.
Mol Genet Metab
; 131(3): 285-288, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33004274
8.
Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.
Mol Genet Metab
; 126(1): 64-76, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30446350
9.
Acylpeptide hydrolase (APEH) sequence variants with potential impact on the metabolism of the antiepileptic drug valproic acid.
Metab Brain Dis
; 34(6): 1629-1634, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363986
10.
In memoriam Willy Lehnert.
J Inherit Metab Dis
; 46(6): 1209, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37886893
11.
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.
J Inherit Metab Dis
; 41(2): 187-196, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29368224
12.
mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells.
J Am Soc Nephrol
; 28(1): 230-241, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27297946
13.
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
Biochim Biophys Acta Mol Basis Dis
; 1863(12): 3294-3302, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28888424
14.
d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.
Mol Genet Metab
; 121(2): 80-82, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28462797
15.
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Mol Genet Metab
; 122(1-2): 67-75, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28689740
16.
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Mol Genet Metab
; 121(3): 206-215, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28583327
17.
Impaired ketone body utilisation as a cause of life-threatening ketoacidosis.
Postgrad Med J
; 98(1161): e21, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33504614
18.
Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.
J Am Soc Nephrol
; 27(5): 1426-36, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26376857
19.
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Mol Genet Metab
; 119(1-2): 44-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27477828
20.
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.
Metab Brain Dis
; 31(3): 587-92, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26686503