Detalhe da pesquisa
1.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Eur J Neurol
; 31(7): e16275, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576261
2.
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.
Hum Mutat
; 43(10): 1361-1367, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35753050
3.
Pediatric status epilepticus: Identification of prognostic factors using the new ILAE classification after 5 years of follow-up.
Epilepsia
; 60(12): 2486-2498, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721184
4.
Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.
J Hum Genet
; 63(4): 525-528, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29410510
5.
Acute Liver Failure: Outcome and Value of Pediatric End-Stage Liver Disease Score in Pediatric Cases.
Pediatr Emerg Care
; 34(6): 409-412, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29851917
6.
Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease.
Epilepsia
; 58(8): 1380-1388, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28632327
7.
Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders.
Antioxidants (Basel)
; 12(3)2023 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36978966
8.
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
J Clin Med
; 11(10)2022 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35629059
9.
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
JIMD Rep
; 63(2): 146-161, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35281663
10.
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
J Clin Med
; 11(17)2022 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36078975
11.
Vigabatrin efficacy in GPR56-associated polymicrogyria: The role of GABAA receptor pathway.
Epilepsia
; 57(8): 1337-8, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27485378
12.
Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency.
JIMD Rep
; 62(1): 3-5, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34765390
13.
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.
Genes (Basel)
; 12(10)2021 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34680984
14.
New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient.
Neuromuscul Disord
; 31(8): 773-782, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34210538
15.
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Ann Clin Transl Neurol
; 8(11): 2155-2165, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34662929
16.
Pediatric Community-Acquired Bone and Joint Staphylococcus Aureus Infections In Europe: Severe Infections are Associated to Panton-Valentine Leucocidin Presence.
Pediatr Infect Dis J
; 39(6): e73-e76, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32221170
17.
[Newborn Screening Program in the Community of Madrid: evaluation of positive cases.] / Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid.
Rev Esp Salud Publica
; 942020 Dec 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-33372917
18.
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.
Eur J Hum Genet
; 27(9): 1369-1378, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31053780
19.
¿Cómo realizamos el cribado visual en Atención Primaria? / How is vision screening performed in primary care?
Pediatr. aten. prim
; 24(95)jul.- sept. 2022. ilus, tab, graf
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-212654
20.
Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid / Newborn Screening Program in the Community of Madrid: evaluation of positive cases
Rev. esp. salud pública
; 94: 0-0, 2020. tab, graf
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-200472