Detalhe da pesquisa
1.
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
2.
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
3.
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
em Inglês
| MEDLINE | ID: mdl-23707711
4.
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
em Inglês
| MEDLINE | ID: mdl-23179554
5.
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
em Inglês
| MEDLINE | ID: mdl-22980518
6.
Clinical and inflammatory markers in amniotic fluid as predictors of adverse outcomes in preterm premature rupture of membranes.
Am J Obstet Gynecol
; 205(2): 126.e1-8, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21621184
7.
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Orphanet J Rare Dis
; 16(1): 195, 2021 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33931066
8.
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
em Inglês
| MEDLINE | ID: mdl-20614188
9.
[50 years of the Neonatal Screening Program in Catalonia.] / 50 años del Programa de Cribado Neonatal en Cataluña.
Rev Esp Salud Publica
; 942020 Dec 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-33323926
10.
Predictive value of combined amniotic fluid proteomic biomarkers and interleukin-6 in preterm labor with intact membranes.
Am J Obstet Gynecol
; 200(5): 499.e1-6, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19375569
11.
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.
Mol Genet Metab
; 93(2): 216-8, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18024216
12.
Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.
Mol Genet Metab
; 94(2): 234-9, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18329934
13.
Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Orphanet J Rare Dis
; 18(1): 188, 2023 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37443087
14.
Changes in intestinal and liver global gene expression in response to a phytosterol-enriched diet.
Atherosclerosis
; 181(1): 75-85, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15939057
15.
Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes.
Mitochondrion
; 13(4): 337-41, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23583954
16.
Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue.
JIMD Rep
; 1: 125-9, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430839
17.
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17ß-hydroxysteroid dehydrogenase 10 deficiency.
Eur J Hum Genet
; 18(12): 1353-5, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20664630
18.
Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation.
J Chromatogr B Analyt Technol Biomed Life Sci
; 877(24): 2513-8, 2009 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19608465
19.
Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).
Clin Biochem
; 42(4-5): 408-15, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19146845
20.
Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging.
Eur J Paediatr Neurol
; 13(6): 534-40, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19167251