Detalhe da pesquisa
1.
Cognitive stimulation has potential for brain activation in individuals with Rett syndrome.
J Intellect Disabil Res
; 66(3): 213-224, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34796573
2.
Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism.
Biochim Biophys Acta
; 1862(4): 592-600, 2016 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26809120
3.
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
J Med Genet
; 52(8): 514-22, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26092869
4.
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency.
Mol Genet Metab
; 114(1): 34-40, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25468651
5.
Parkinsonism and inborn errors of metabolism.
J Inherit Metab Dis
; 37(4): 627-42, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906253
6.
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
7.
Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria.
Clin Genet
; 78(6): 554-9, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20584029
8.
Epilepsy and inborn errors of metabolism in children.
J Inherit Metab Dis
; 32(5): 609, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19642011
9.
Mental retardation and inborn errors of metabolism.
J Inherit Metab Dis
; 32(5): 597-608, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19685154
10.
Inborn errors of metabolism and motor disturbances in children.
J Inherit Metab Dis
; 32(5): 618-29, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19731074
11.
[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
12.
[New insights in inborn errors of metabolism are leading to new paradigms in child neurology]. / Nuevos conocimientos sobre errores congenitos del metabolismo estan dando lugar a nuevos paradigmas en neuropediatria.
Rev Neurol
; 66(s02): S37-S42, 2018 06 05.
Artigo
em Espanhol
| MEDLINE | ID: mdl-29876911
13.
Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis.
J Inherit Metab Dis
; 30(2): 267, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17372855
14.
[Multiple familial cerebral cavernomatosis]. / Cavernomatosis múltiple cerebral familiar.
Rev Neurol
; 44(11): 657-60, 2007.
Artigo
em Espanhol
| MEDLINE | ID: mdl-17557222
15.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. / Déficit de 3-hidroxiacil-CoA-deshidrogenasa de cadena larga: a propósito de un caso.
Arch Soc Esp Oftalmol
; 91(5): 236-9, 2016 May.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-26896063
16.
Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission.
Semin Pediatr Neurol
; 23(4): 306-320, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28284392
17.
Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment.
Data Brief
; 7: 755-9, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27054191
18.
A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities.
Sci Rep
; 6(1): 15, 2016 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28442759
19.
Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders.
Biofactors
; 25(1-4): 109-15, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16873935
20.
[Inborn errors of metabolism with neurological symptomathology in the neonatal period]. / Errores congénitos del metabolismo con manifestaciones neurológicas de presentación neonatal.
Rev Neurol
; 40(6): 321-6, 2005.
Artigo
em Espanhol
| MEDLINE | ID: mdl-15795866