Detalhe da pesquisa
1.
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
Hum Mutat
; 40(10): 1700-1712, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058414
2.
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
3.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol
; 82(6): 1004-1015, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29205472
4.
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
J Hum Genet
; 62(3): 355-360, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27904153
5.
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.
Neurogenetics
; 17(1): 51-6, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26445863
6.
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
Neurogenetics
; 17(4): 259-263, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27679995
7.
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.
Hum Mutat
; 34(12): 1623-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24105702
8.
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
Mol Genet Metab
; 110(1-2): 73-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23707711
9.
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.
BMC Nephrol
; 14: 195, 2013 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24034276
10.
Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.
Nutrients
; 14(13)2022 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35807935
11.
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
12.
Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation.
Headache
; 51(10): 1542-6, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22082423
13.
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
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.
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
Orphanet J Rare Dis
; 16(1): 464, 2021 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34732228
16.
Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.
J Inherit Metab Dis
; 33 Suppl 3: S293-6, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20614188
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.
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
J Clin Med
; 8(11)2019 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31683770
19.
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
Eur J Hum Genet
; 27(4): 556-562, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30626930
20.
Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.
Pediatr Dev Pathol
; 20(5): 416-420, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28812460