Detalhe da pesquisa
1.
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
2.
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.
Int J Mol Sci
; 24(24)2023 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38138969
3.
Association of Dickkopf-1 Polymorphisms With Radiological Damage and Periodontal Disease in Patients With Early Rheumatoid Arthritis: A Cross-Sectional Study.
J Clin Rheumatol
; 26(7S Suppl 2): S187-S194, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32332267
4.
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
5.
Design and synthesis of 2,6-disubstituted-8-amino imidazo[1,2a]pyridines, a promising privileged structure.
Bioorg Med Chem
; 26(12): 3296-3307, 2018 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29753566
6.
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
7.
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
8.
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
9.
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
10.
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
11.
Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter.
Nat Commun
; 15(1): 2986, 2024 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38582862
12.
Role of creatine as biomarker of mitochondrial diseases.
Mol Genet Metab
; 108(2): 119-24, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23313063
13.
Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number.
J Chromatogr B Analyt Technol Biomed Life Sci
; 1226: 123787, 2023 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37327517
14.
Defining the pathogenicity of creatine deficiency syndrome.
Hum Mutat
; 32(3): 282-91, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21140503
15.
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.
J Inherit Metab Dis
; 33(1): 1-7, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20049533
16.
[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene]. / Deficiencia cerebral de creatina: primeros pacientes españoles con mutaciones en el gen GAMT.
Med Clin (Barc)
; 133(19): 745-9, 2009 Nov 21.
Artigo
em Espanhol
| MEDLINE | ID: mdl-19892372
17.
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Clin Biochem
; 40(16-17): 1328-31, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17825809
18.
Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease.
JIMD Rep
; 37: 7-12, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28220406
19.
Methods for the diagnosis of creatine deficiency syndromes: a comparative study.
J Neurosci Methods
; 156(1-2): 305-9, 2006 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-16621013
20.
Treatment of genetic defects of thiamine transport and metabolism.
Expert Rev Neurother
; 16(7): 755-63, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27191787