Concepedia

María del Mar O’Callaghan

MD

15

Publications

907

Citations

14

H-Index

2010

Active since

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Hospital Sant Joan de Déu Barcelona

Instituto de Salud Carlos III

Universidad de Zaragoza

University College London

María del Mar O’Callaghan is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, natural sciences, and molecular genetics.

Top concepts

Publications per year

2010–2021

15

Publications

15

Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing

Pradeep Reddy, Alejandro Ocampo, Keiichiro Suzuki et al. · Cell · 2015 · 283 citations · Full text

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Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

Sofia Duarte, Judith Armstrong, Ana Roche et al. · PLoS ONE · 2013 · 90 citations · Full text

Genistein supplementation in patients affected by Sanfilippo disease

Verónica Delgadillo, María del Mar O’Callaghan, Rafael Artuch et al. · Journal of Inherited Metabolic Disease · 2011 · 74 citations

Natural history of Sanfilippo syndrome in Spain

Verónica Delgadillo, María del Mar O’Callaghan, Laura Gort et al. · Orphanet Journal of Rare Diseases · 2013 · 68 citations · Full text

Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

Mercedes Serrano, María Teresa García‐Silva, Elena Martín‐Hernández et al. · Mitochondrion · 2010 · 59 citations

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