Publications by authors named "Maria O'Callaghan"

Claim this Profile
D
Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children.
Roser Pons, Toni S Pearson, Belen Perez-Dueñas, Angels Garcia-Cazorla, Manju A Kurian, Maria Del Mar O'Callaghan

Mov Disord· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.
Helena Rodriguez-Gonzalez, Aida Ormazabal, Mercedes Casado, Angela Y Arias, Clara Oliva, Maria M O'Callaghan

Clin Chem· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations of GEMIN5 are associated with coenzyme Q deficiency: long-term follow-up after treatment.
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala

Eur J Hum Genet· April 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
Selena Trifunov, Abraham J Paredes-Fuentes, Carmen Badosa, Anna Codina, Julio Montoya, Maria M O'Callaghan

Clin Chem· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Charlotte L Alston, Nicolai Kohlschmidt, Maria O'Callaghan

J Inherit Metab Dis· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome.
Sonia Emperador, Nuria Garrido-Pérez, Javier Amezcua-Gil, Paula Gaudó, Julio Alberto Andrés-Sanz, Maria M O'Callaghan

Front Genet· January 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.
Ana Fernández-Marmiesse, Sofía Sánchez-Iglesias, Alejandra Darling, María M O'Callaghan, Raúl Tonda

Seizure· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Cristina Jou, Juan D Ortigoza-Escobar, Maria M O'Callaghan, Andres Nascimento, Alejandra Darling

J Clin Med· January 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Plasma coenzyme Q status is impaired in selected genetic conditions.
Raquel Montero, Delia Yubero, Maria C Salgado, María Julieta González, Jaume Campistol, Maria Del Mar O'Callaghan

Sci Rep· January 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Judith Armstrong, Carmen Calvo, Maria Del Mar O'Callaghan

Orphanet J Rare Dis· May 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study.
Cristóbal Colón, J Victor Alvarez, Cristina Castaño, Luís G Gutierrez-Solana, Ana M Marquez, María O'Callaghan

Medicine (Baltimore)· May 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.
Claudio Asencio, María A Rodríguez-Hernandez, Paz Briones, Julio Montoya, Ana Cortés, María M O'Callaghan

Eur J Hum Genet· March 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical, etiological and therapeutic aspects of cerebral folate deficiency.
Marta Molero-Luis, Mercedes Serrano, Maria M O'Callaghan, Cristina Sierra, Belén Pérez-Dueñas

Expert Rev Neurother· March 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutation loads in different tissues from six pathogenic mtDNA point mutations.
María M O'Callaghan, Sonia Emperador, Mercè Pineda, Ester López-Gallardo, Raquel Montero

Mitochondrion· May 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome.
Sofia Temudo Duarte, Judith Armstrong, Ana Roche, Carlos Ortez, Ana Pérez, Maria del Mar O'Callaghan

PLoS One· March 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Natural history of Sanfilippo syndrome in Spain.
Verónica Delgadillo, Maria del Mar O'Callaghan, Laura Gort, Maria Josep Coll, Mercedes Pineda

Orphanet J Rare Dis· December 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Multidrug-resistant tuberculosis in UK children: presentation, management and outcome.
Bhanu Williams, Shiva Ramroop, Pooja Shah, Laura Anderson, Sreena Das, Maria O'Callaghan

Eur Respir J· June 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Factors influencing T cell activation and programmed death 1 expression in HIV-infected children.
Andrew Prendergast, Maria O'Callaghan, Esse Menson, Djamel Hamadache, Sam Walters

AIDS Res Hum Retroviruses· May 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genistein supplementation in patients affected by Sanfilippo disease.
Verónica Delgadillo, Maria Del Mar O'Callaghan, Rafael Artuch, Raquel Montero, Mercedes Pineda

J Inherit Metab Dis· October 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
K
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.
Mercedes Serrano, María Teresa García-Silva, Elena Martin-Hernandez, Maria del Mar O'Callaghan, Pilar Quijada

Mitochondrion· August 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis