Detalhe da pesquisa
1.
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
Hum Mutat
; 38(2): 148-151, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27862579
2.
A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.
J Pediatr
; 183: 170-177.e1, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28139241
3.
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
Inglês
| MEDLINE | ID: mdl-24256811
4.
Expanding the clinical phenotypes of MT-ATP6 mutations.
Hum Mol Genet
; 23(23): 6191-200, 2014 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24986921
5.
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
Inglês
| MEDLINE | ID: mdl-22077971
6.
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
Inglês
| MEDLINE | ID: mdl-23774949
7.
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.
BMC Pediatr
; 14: 284, 2014 Nov 08.
Artigo
Inglês
| MEDLINE | ID: mdl-25381171
8.
Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects.
Phytother Res
; 28(2): 312-6, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23620374
9.
Role of creatine as biomarker of mitochondrial diseases.
Mol Genet Metab
; 108(2): 119-24, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23313063
10.
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
Mol Genet Metab
; 110(1-2): 73-7, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23707711
11.
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
J Inherit Metab Dis
; 36(5): 841-7, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23179554
12.
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
Neurogenetics
; 13(3): 245-50, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22638997
13.
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Mol Genet Metab
; 107(3): 409-15, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22980518
14.
Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.
Mov Disord
; 32(7): 1108-1110, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28436574
15.
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.
J Inherit Metab Dis
; 34(4): 929-39, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21541725
16.
Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up.
Mov Disord
; 25(9): 1262-8, 2010 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-20629161
17.
Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.
Pediatr Res
; 68(2): 151-4, 2010 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-20421844
18.
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
J Inherit Metab Dis
; 33 Suppl 3: S315-9, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20652410
19.
Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.
J Inherit Metab Dis
; 33 Suppl 3: S293-6, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20614188
20.
Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain.
Invest Clin
; 51(3): 423-31, 2010 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-21302592