Maria Del Mar OCallaghan
Overview
Explore the profile of Maria Del Mar OCallaghan including associated specialties, affiliations and a list of published articles.
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11
Citations
320
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Recent Articles
1.
Paredes-Fuentes A, Cesar S, Montero R, Latre C, Genoves J, Martorell L, et al.
Biomed Pharmacother
. 2021 Sep;
143:112143.
PMID: 34507114
Introduction And Objectives: Despite the growing interest and the potential benefits of idebenone as a repurposed drug for different orphan conditions, data regarding its monitoring are scarce. Our main goal...
2.
Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta J, et al.
Sci Rep
. 2021 Sep;
11(1):18146.
PMID: 34493777
No abstract available.
3.
Montero R, Yubero D, Salgado M, Gonzalez M, Campistol J, Del Mar OCallaghan M, et al.
Sci Rep
. 2019 Jan;
9(1):793.
PMID: 30692599
Identifying diseases displaying chronic low plasma Coenzyme Q (CoQ) values may be important to prevent possible cardiovascular dysfunction. The aim of this study was to retrospectively evaluate plasma CoQ concentrations...
4.
Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta J, et al.
Sci Rep
. 2017 Sep;
7(1):12288.
PMID: 28947817
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However,...
5.
Andrade-Campos M, Alfonso P, Irun P, Armstrong J, Calvo C, Dalmau J, et al.
Orphanet J Rare Dis
. 2017 May;
12(1):84.
PMID: 28468677
Background: The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosis...
6.
Reddy P, Ocampo A, Suzuki K, Luo J, Bacman S, Williams S, et al.
Cell
. 2015 Apr;
161(3):459-469.
PMID: 25910206
Mitochondrial diseases include a group of maternally inherited genetic disorders caused by mutations in mtDNA. In most of these patients, mutated mtDNA coexists with wild-type mtDNA, a situation known as...
7.
Delgadillo V, Del Mar OCallaghan M, Gort L, Coll M, Pineda M
Orphanet J Rare Dis
. 2013 Dec;
8:189.
PMID: 24314109
Background: Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulphate. Four MPS...
8.
Duarte S, Armstrong J, Roche A, Ortez C, Perez A, Del Mar OCallaghan M, et al.
PLoS One
. 2013 Jul;
8(7):e68851.
PMID: 23894354
Objective: Rett Syndrome is a progressive neurodevelopmental disorder caused mainly by mutations in the gene encoding methyl-CpG-binding protein 2. The relevance of MeCP2 for GABAergic function was previously documented in...
9.
Del Mar OCallaghan M, Emperador S, Lopez-Gallardo E, Jou C, Bujan N, Montero R, et al.
Neurogenetics
. 2012 May;
13(3):245-50.
PMID: 22638997
The reported cases showed clinical, biochemical, histopathological, and molecular features lending support to the hypothesis of a pathogenic effect of the detected mutations. Case 1 was a neonatal presentation who...
10.
Delgadillo V, Del Mar OCallaghan M, Artuch R, Montero R, Pineda M
J Inherit Metab Dis
. 2011 May;
34(5):1039-44.
PMID: 21556833
Background: Mucopolysaccharidosis type III (Sanfilippo syndrome) is a group of autosomal recessive disorders caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan...