Detalhe da pesquisa
1.
Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement.
Gene Ther
; 31(1-2): 12-18, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37985879
2.
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
J Med Genet
; 50(7): 463-72, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23644449
3.
Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency.
Mol Genet Metab
; 109(4): 360-5, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746552
4.
Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency.
Mol Genet Metab
; 99(3): 296-9, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19955008
5.
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
Clin Genet
; 77(5): 474-82, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20002461
6.
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.
Clin Genet
; 78(5): 441-8, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20236116
7.
An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.
Mol Genet Metab Rep
; 22: 100553, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31908952
8.
Secondary disorders of glycosylation in inborn errors of fructose metabolism.
J Inherit Metab Dis
; 32 Suppl 1: S273-8, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19768653
9.
Creatine transporter deficiency in two adult patients with static encephalopathy.
J Inherit Metab Dis
; 32 Suppl 1: S91-6, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19319661
10.
PDH E1ß deficiency with novel mutations in two patients with Leigh syndrome.
J Inherit Metab Dis
; 32 Suppl 1: S339-43, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19924563
11.
Cervical length and gestational age at admission as predictors of intra-amniotic inflammation in preterm labor with intact membranes.
Ultrasound Obstet Gynecol
; 34(4): 441-7, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19731395
12.
Arginine supplementation in four patients with X-linked creatine transporter defect.
J Inherit Metab Dis
; 31(6): 724-8, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18925426
13.
[Adult-onset metabolic diseases]. / Enfermedades metabólicas de aparición en la edad adulta.
An Sist Sanit Navar
; 31 Suppl 2: 75-89, 2008.
Artigo
em Espanhol
| MEDLINE | ID: mdl-18953373
14.
Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency.
J Inherit Metab Dis
; 30(6): 979, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17957492
15.
[Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease]. / Deficiencia del transportador de creatina cerebral: una enfermedad neurometabolica infradiagnosticada.
Rev Neurol
; 44(6): 343-7, 2007.
Artigo
em Espanhol
| MEDLINE | ID: mdl-17385170
16.
[Glutaric aciduria type I. Clinical, biochemical and molecular findings in six patients in Venezuela]. / Aciduria glutárica tipo I. Hallazgos clínicos, bioquímicos y moleculares en seis pacientes venezolanos.
Rev Neurol
; 44(10): 610-5, 2007.
Artigo
em Espanhol
| MEDLINE | ID: mdl-17523120
17.
Autologous bone marrow Th cells can support multiple myeloma cell proliferation in vitro and in xenografted mice.
Leukemia
; 31(10): 2114-2121, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28232741
18.
[Myths and evidence on the use of botulinum toxin: spasticity in adults and in children with cerebral palsy]. / Mitos y evidencias en el empleo de la toxina botulinica: espasticidad del adulto y del nintilde;o con paralisis cerebral.
Rev Neurol
; 64(10): 459-470, 2017 May 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-28497442
19.
Molecular characterization of congenital myasthenic syndromes in Spain.
Neuromuscul Disord
; 27(12): 1087-1098, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29054425
20.
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
Clin Genet
; 80(3): 297-300, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21815885