Detalhe da pesquisa
1.
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
Neuropediatrics
; 49(6): 408-413, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304743
2.
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Int J Mol Sci
; 19(2)2018 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29470411
3.
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.
J Hum Genet
; 62(2): 185-189, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27535030
4.
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
Ann Neurol
; 71(4): 520-30, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22522443
5.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Genome Med
; 15(1): 68, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679823
6.
Hunter syndrome: resolution of extensive typical skin lesions after 9 months of enzyme replacement therapy with idursulfase.
Pediatr Dermatol
; 29(3): 369-70, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-21995841
7.
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Neurology
; 98(9): e912-e923, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35012964
8.
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
JIMD Rep
; 51(1): 53-61, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32071839
9.
Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.
Mol Genet Metab Rep
; 15: 116-120, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30023300
10.
A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study.
Medicine (Baltimore)
; 96(19): e6887, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28489793
11.
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).
Orphanet J Rare Dis
; 12(1): 155, 2017 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28915903
12.
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.
Arch Neurol
; 62(4): 659-61, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15824269
13.
[Analysis of a series of cases with an initial diagnosis of acute disseminated encephalomyelitis over the period 2000-2010]. / Análisis de una serie de casos con diagnostico inicial de encefalomielitis aguda diseminada en el periodo 2000-2010.
Rev Neurol
; 57(7): 297-305, 2013 Oct 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-24052440
14.
[MCT8-specific thyroid hormone cell transporter deficiency: a case report and review of the literature]. / Deficiencia del transportador celular de hormona tiroidea MCT8: caso clinico y revision de la bibliografia.
Rev Neurol
; 56(12): 615-22, 2013 Jun 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-23744248
15.
Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population.
JIMD Rep
; 10: 61-8, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430804
16.
[Characteristics and evolution of patients with Alice in Wonderland syndrome]. / Características y evolución de los pacientes con síndrome de Alicia en el País de las Maravillas.
Rev Neurol
; 53(11): 641-8, 2011 Dec 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-22086425
17.
[Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus]. / Características clínicas, electroencefalográficas y genómicas de los pacientes con epilepsia con crisis febriles plus.
Rev Neurol
; 52(7): 404-11, 2011 Apr 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-21425109
18.
[Use of bromides in five epileptic patients]. / Utilizacion de bromuros en cinco pacientes epilepticos.
Rev Neurol
; 61(12): 573-5, 2015 Dec 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-26662876
19.
[Clinical practice guideline for the management of Hunter syndrome. Hunter España working group]. / Guía de práctica clínica para el tratamiento del síndrome de Hunter.
Med Clin (Barc)
; 141(10): 453.e1-13, 2013 Nov 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-24060500
20.
Narcolepsy-cataplexy induced by a cow milk oral immunotherapy protocol?
Sleep Med
; 12(7): 730-1, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21757404