Concepedia

Author

Mercédes Pineda

Hospital Sant Joan de Déu Barcelona

Also Known As

Marc Patterson, Mercedes Pineda, Mercedes Pineda (435126), Mercédes Pineda, P Mercedes

46

Publications

2.1K

Citations

24

H-Index

72

Concepts

All Affiliations

Hospital Sant Joan de Déu BarcelonaCentre for Biomedical Network Research on Rare DiseasesInstituto de Salud Carlos IIIUniversidad de ZaragozaHospital Clínic de Barcelona
MP

About

Mercédes Pineda is an author at Hospital Sant Joan de Déu Barcelona specializing in medicine, neuropathology, and genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

14

16

820

2

Social Sciences

2

2

59

3

Engineering

1

1

14

4

Natural Sciences

1

1

28

5

Public Health

1

1

23

Mercédes Pineda

×

33

Publications

1.9K

Citations

23

H-Index

YearCitations

Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy

Virginia Haurigot, Sara Marcó, Albert Ribera,

Journal of Clinical Investigation

2013

229

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

Raquel Montero, Dèlia Yubero, Joan Villarroya,

PLoS ONE

2016

172

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Adriana M. Montaño, Lock Hock Ngu, Robert D. Steiner,

Journal of Medical Genetics

2016

162

Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich’s Ataxia

Daniel Velasco‐Sanchez, Asunción Aracil, Raquel Montero,

The Cerebellum

2010

144

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry

Marc C. Patterson, Eugen Mengel, Marie T. Vanier,

Orphanet Journal of Rare Diseases

2020

91

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

Sofia Duarte, Judith Armstrong, Ana Roche,

PLoS ONE

2013

90

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and <i>PTEN</i> mutations

Adeline Vanderver, Davide Tonduti, Ilana Kahn,

American Journal of Medical Genetics Part A

2013

76

Genistein supplementation in patients affected by Sanfilippo disease

Verónica Delgadillo, María del Mar O’Callaghan, Rafael Artuch,

Journal of Inherited Metabolic Disease

2011

74

The impact of MECP2 mutations in the expression patterns of Rett syndrome patients

Esteban Ballestar, Santiago Ropero, Miguel Alaminos,

Human Genetics

2004

72

Natural history of Sanfilippo syndrome in Spain

Verónica Delgadillo, María del Mar O’Callaghan, Laura Gort,

Orphanet Journal of Rare Diseases

2013

68

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