Detalhe da pesquisa
1.
Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal ß-oxidation disorders.
J Lipid Res;
65(3): 100516, 2024 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38320654
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.
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.
Clin Chem Lab Med;
2024 Mar 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38456798
4.
Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.
Clin Chem Lab Med;
62(3): 493-505, 2024 Feb 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37794778
5.
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
6.
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
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.
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.
J Inherit Metab Dis;
44(4): 961-971, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33861472
9.
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
10.
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
11.
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
12.
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
13.
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
14.
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
Am J Hum Genet;
89(5): 656-67, 2011 Nov 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22077971
15.
Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease.
J Inherit Metab Dis;
37(3): 439-46, 2014 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24347096
16.
Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency.
J Inherit Metab Dis;
37(1): 53-62, 2014 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23774949
17.
Role of creatine as biomarker of mitochondrial diseases.
Mol Genet Metab;
108(2): 119-24, 2013 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23313063
18.
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.
Clin Genet;
94(6): 592-593, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30427553
19.
Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report.
J Clin Med;
12(23)2023 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38068509
20.
Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review.
J Clin Med;
12(19)2023 Oct 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37835050