Esther E. Medinilla-Moreno
Malaga, AN, Spain
Last Updated: 09/26/2026
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Found 12 publications
Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: April 18, 2018
Aicardi-Goutières syndrome: Phenotypic and genetic spectrum in a series of three cases
Journal: Anales de pediatria
Published: February 11, 2018
Borderline phenotype of Pelizaeus-Merzbacher disease
Journal: Revista de neurologia
Published: December 14, 2017
LEOPARD syndrome: A variant of Noonan syndrome with lentigines
Journal: Anales de pediatria
Published: November 17, 2017
Acute polyneuropathies in a hospital in the south of Spain: ten years' experience
Journal: Revista de neurologia
Published: May 31, 2017
Koolen de Vries syndrome: A challenge in clinical practice
Journal: Anales de pediatria (Barcelona, Spain : 2003)
Published: May 04, 2016
Status epilepticus in paediatrics: a retrospective study and review of the literature
Journal: Revista de neurologia
Published: April 28, 2015
Focal nodular hyperplasia: A diagnosis to consider in a hepatic mass
Journal: Anales de pediatria (Barcelona, Spain : 2003)
Published: February 02, 2015
Variability in the clinical presentation of Pompe disease in infancy: two case reports and response to treatment with human recombinant enzyme
Journal: Revista de neurologia
Published: November 25, 2014
Duchenne muscular dystrophy: Case of atypical presentation and early diagnosis
Journal: Archivos argentinos de pediatria
Published: September 28, 2014
Congenital lobar hyperinflation: conservative management as an alternative therapy
Journal: Anales de pediatria (Barcelona, Spain : 2003)
Published: May 01, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026