Detalhe da pesquisa
1.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653363
2.
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Mol Genet Metab
; 142(3): 108511, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38878498
3.
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
J Inherit Metab Dis
; 46(3): 371-390, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37020324
4.
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
J Inherit Metab Dis
; 46(6): 1029-1042, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37718653
5.
Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.
Int J Mol Sci
; 24(15)2023 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37569695
6.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34989426
7.
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.
Int J Mol Sci
; 23(20)2022 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36293220
8.
Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
J Inherit Metab Dis
; 44(5): 1215-1225, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33973257
9.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis
; 44(2): 401-414, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677093
10.
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
Mol Genet Metab
; 131(3): 349-357, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33153867
11.
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
J Inherit Metab Dis
; 43(2): 297-308, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31339582
12.
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
Hum Mutat
; 40(10): 1700-1712, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058414
13.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
J Inherit Metab Dis
; 42(1): 128-139, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740731
14.
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
J Inherit Metab Dis
; 41(6): 1147-1158, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974349
15.
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
Hum Mutat
; 38(2): 148-151, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862579
16.
Small molecules as therapeutic agents for inborn errors of metabolism.
J Inherit Metab Dis
; 40(2): 177-193, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27966099
17.
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Brain
; 139(Pt 1): 31-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26657515
18.
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
Hum Mol Genet
; 23(7): 1907-15, 2014 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24256811
19.
Differential diagnosis of lipoic acid synthesis defects.
J Inherit Metab Dis
; 39(6): 781-793, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27586888
20.
Cholestane-3ß,5α,6ß-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.
J Lipid Res
; 56(10): 1926-35, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26239048