Detalhe da pesquisa
1.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Ann Neurol
; 92(2): 292-303, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616651
2.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Genet Med
; 24(8): 1781-1788, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503103
3.
Postauthorization safety study of betaine anhydrous.
J Inherit Metab Dis
; 45(4): 719-733, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358327
4.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773687
5.
Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome.
Dis Model Mech
; 15(3)2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35191981
6.
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
7.
[A study of epilepsy according to the age at onset and monitored for 3 years in a regional reference paediatric neurology unit]. / Estudio de las epilepsias según la edad de inicio, controladas durante 3 años en una unidad de neuropediatría de referencia regional.
An Pediatr (Barc)
; 86(1): 11-19, 2017 Jan.
Artigo
em Espanhol
| MEDLINE | ID: mdl-27291698
8.
Encephalopathy, kidney failure and retinopathy. CoQ10 deficiency due to COQ8B mutation.
An Pediatr (Engl Ed)
; 94(6): 415-417, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34090639
9.
[Lysosomal acid lipase deficiency: A rarely recognised cause of dyslipidaemia and liver dysfunction]. / Deficiencia de lipasa ácida lisosomal: una causa poco reconocida de dislipemia y disfunción hepática.
An Pediatr (Engl Ed)
; 94(1): 50-51, 2021 Jan.
Artigo
em Espanhol
| MEDLINE | ID: mdl-32736925
10.
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.
Orphanet J Rare Dis
; 11: 38, 2016 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27072799
11.
[Clinical impact of translocation t(7;15) (p22;q26) on several family members]. / Repercusión clínica de la traslocación t(7;15) (p22;q26) en varios miembros de una misma familia.
An Pediatr (Barc)
; 87(2): 113-115, 2017 Aug.
Artigo
em Espanhol
| MEDLINE | ID: mdl-27986448
12.
[Diffuse leukoencephalopathy due to congenital infection by cytomegalovirus]. / Leucoencefalopatia difusa por infeccion congenita por citomegalovirus.
Rev Neurol
; 50(4): 255-6, 2010.
Artigo
em Espanhol
| MEDLINE | ID: mdl-20198599
13.
[Self-evaluation of compliance with the protocol for managing craniocerebral injury in children under one year of age in the emergency department]. / Autoevaluación del cumplimiento del protocolo de manejo del traumatismo craneoencefálico en niños menores de 1 año en urgencias.
Rev Calid Asist
; 24(4): 177-8, 2009 Aug.
Artigo
em Espanhol
| MEDLINE | ID: mdl-19647680