Mercedes Pineda
Barcelona, CT 08950, Spain
Last Updated: 09/26/2026
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Found 18 publications
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Journal: European journal of human genetics : EJHG
Published: July 05, 2023
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry.
Journal: Orphanet journal of rare diseases
Published: October 29, 2019
Analysis of the Phenotypes in the Rett Networked Database.
Journal: International journal of genomics
Published: May 03, 2018
Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report.
Journal: Pediatric transplantation
Published: April 28, 2017
Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages.
Journal: Molecular genetics and metabolism
Published: September 15, 2016
Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.
Journal: European journal of human genetics : EJHG
Published: February 25, 2016
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Journal: Journal of medical genetics
Published: July 14, 2015
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.
Journal: European journal of human genetics : EJHG
Published: November 26, 2014
Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 05, 2014
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.
Journal: BMC pediatrics
Published: July 04, 2014
Last Updated: 09/26/2026