Detalhe da pesquisa
1.
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cell
; 142(2): 203-17, 2010 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20637498
2.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 142(1): 108363, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38452608
3.
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
J Med Genet
; 60(11): 1133-1141, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460201
4.
Targeted Small-Molecule Identification Using Heartcutting Liquid Chromatography-Infrared Ion Spectroscopy.
Anal Chem
; 95(6): 3406-3413, 2023 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36735826
5.
An In Silico Infrared Spectral Library of Molecular Ions for Metabolite Identification.
Anal Chem
; 95(23): 8998-9005, 2023 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37262385
6.
Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism.
Anal Chem
; 95(26): 9787-9796, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37341384
7.
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.
J Inherit Metab Dis
; 46(1): 66-75, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088537
8.
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
J Inherit Metab Dis
; 2023 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455357
9.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Brain
; 145(7): 2602-2616, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35104841
10.
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Cell Mol Life Sci
; 79(6): 305, 2022 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35593933
11.
The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP.
PLoS Genet
; 16(7): e1008884, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32639996
12.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Am J Hum Genet
; 105(3): 534-548, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422819
13.
DTYMK is essential for genome integrity and neuronal survival.
Acta Neuropathol
; 143(2): 245-262, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918187
14.
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.
J Inherit Metab Dis
; 45(4): 682-695, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35546254
15.
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.
J Inherit Metab Dis
; 45(6): 1048-1058, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35999711
16.
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
J Inherit Metab Dis
; 45(4): 663-681, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506430
17.
Lactate infusion as therapeutical intervention: a scoping review.
Eur J Pediatr
; 181(6): 2227-2235, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35304646
18.
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
Am J Hum Genet
; 103(1): 125-130, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909962
19.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Am J Hum Genet
; 102(4): 685-695, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29576219
20.
Metabolite Identification Using Infrared Ion SpectroscopyâNovel Biomarkers for Pyridoxine-Dependent Epilepsy.
Anal Chem
; 93(46): 15340-15348, 2021 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34756024