María Antònia Vilaseca

Author

Also Known As

J El Dahr, M Antonia Vilaseca, MARIA ANTONIA VILASECA, Maria A Vilaseca, Maria A. Vilaseca, Maria Antonia Vilaseca, Maria Antònia Vilaseca, María A. Vilaseca, María Antonia Vilaseca, María Antònia Vilaseca

Publications

1.6K

Citations

H-Index

Concepts

All Affiliations

Hospital Sant Joan de Déu Barcelona Universitat de Barcelona Centre for Biomedical Network Research on Rare Diseases Centro de Investigación Biomédica en Red Instituto de Salud Carlos III

About

María Antònia Vilaseca is an author at Hospital Sant Joan de Déu Barcelona specializing in medicine, pediatrics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	23	869
2	Health Sciences	4	4	166
3	Natural Sciences	3	3	113
4	Engineering	1	1	22
5	Public Health	1	1	10

María Antònia Vilaseca

Publications

1.4K

Citations

H-Index

Page 1

	Year	Citations
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion Merçè Pineda, Aída Ormazábal, Ester López‐Gallardo, Annals of Neurology	2005	158
Cognitive functions in classic phenylketonuria and mild hyperphenyl-alaninaemia: experience in a paediatric population Rosa Gassió, Rafael Artuch, María Antònia Vilaseca, Developmental Medicine & Child Neurology NeuropsychologyHpa PatientsClassic PhenylketonuriaNeurologyExecutive Function	2005	97
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy Nilo Lambruschini, Belén Pérez‐Dueñas, María Antònia Vilaseca, Molecular Genetics and Metabolism NutritionPhenylketonuric PatientsClinical NutritionPharmacologyPharmacotherapy	2005	93
Oxidative stress in Rett syndrome Cristina Sierra, María Antònia Vilaseca, Núria Brandi, Brain and Development Reductive StressGeneticsPhysiologyReactive Oxygen SpecieMetabolism	2001	79
Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening Ángela Arias, Marc Corbella, Carmen Fons, Clinical Biochemistry Metabolic SyndromeCreatine Transporter DeficiencyMetabolic DisorderPsychiatryMetabolite Screening	2007	76
School Performance in Early and Continuously Treated Phenylketonuria Rosa Gassió, Eugenia Fusté, Anna López‐Sala, Pediatric Neurology Continuously Treated PhenylketonuriaRenal PathologyPediatricsPaediatric Medicine	2005	62
A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency Ángeles Ruiz, Judit García‐Villoria, Aída Ormazábal, Molecular Genetics and Metabolism BiochemistryNatural SciencesMolecular BiologyMedicineRedox Biology	2007	62
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency Martina Huemer, Regina Mulder‐Bleile, Patricie Burda, Journal of Inherited Metabolic Disease	2015	61
Tetrahydrobiopterin responsiveness in patients with phenylketonuria Belén Pérez‐Dueñas, María Antònia Vilaseca, Anna Mas, Clinical Biochemistry Renal FunctionChronic Kidney DiseaseTetrahydrobiopterin ResponsivenessClinical ChemistryMedicine	2004	50
Multiple Endocrine Involvement in Two Pediatric Patients with Kearns-Sayre Syndrome Rafael Artuch, Carlos Pavía, Ana Playán, Hormone Research in Paediatrics Metabolic DisorderPathologyMetabolic SyndromeAdrenal GlandNeuropathology	1998	47

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