Detalhe da pesquisa
1.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
J Med Genet
; 60(10): 1026-1034, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197783
2.
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Clin Genet
; 102(1): 40-55, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35388452
3.
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Brain
; 144(9): 2659-2669, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415322
4.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis
; 44(2): 401-414, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677093
5.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Clin Genet
; 95(5): 615-626, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30653653
6.
Value of Thyroid Peroxidase Antibodies in Neuroimmune Diseases: Analysis of Interference During Treatment with Intravenous Immunoglobulins.
Lab Med
; 53(4): 426-432, 2022 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35311959
7.
Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases.
Nutrients
; 13(3)2021 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33806661
8.
Tocilizumab in pediatric refractory status epilepticus and acute epilepsy: Experience in two patients.
J Neuroimmunol
; 340: 577142, 2020 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31935626
9.
Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.
Medicine (Baltimore)
; 97(29): e11246, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30024503
10.
Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family.
Pediatr Neurol
; 71: 60-64, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28483396
11.
[Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement]. / Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso.
Med Clin (Barc)
; 147(11): 506.e1-506.e7, 2016 Dec 02.
Artigo
em Espanhol
| MEDLINE | ID: mdl-27816186
12.
[Opsoclonus-myoclonus syndrome: Experience in a tertiary hospital in the last 12 years]. / Síndrome opsoclonus mioclonus. Experiencia en los últimos 12 años en un hospital terciario.
An Pediatr (Engl Ed)
; 93(5): 339-342, 2020 Nov.
Artigo
em Espanhol
| MEDLINE | ID: mdl-32070664
13.
Autoimmune post-herpes simplex encephalitis of adults and teenagers.
Neurology
; 85(20): 1736-43, 2015 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26491084
14.
Neurofibromatosis type 1 associated with moyamoya syndrome in children.
Pediatr Neurol
; 50(1): 96-8, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24269170
15.
Clinical case of anti-N-methyl-D-aspartate receptor encephalitis in an 8-month-old patient with hyperkinetic movement disorder.
Pediatr Neurol
; 48(5): 400-2, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23583060
16.
Immune-mediated mechanisms in the pathogenesis of Hopkins syndrome.
Pediatr Neurol
; 47(5): 373-4, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23044022