MYRIAM
LEY MARTOS
Ikertzailea 2005-2017 tartean
![Foto de MYRIAM](/img/nophoto.png)
![Foto de Hospital Universitario Puerta del Mar](/img/noimage_org.png)
Hospital Universitario Puerta del Mar
Cádiz, EspañaHospital Universitario Puerta del Mar -ko ikertzaileekin lankidetzan egindako argitalpenak (7)
2020
-
A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome
JOURNAL OF MOVEMENT DISORDERS
2018
-
Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy Case report
Medicine (United States), Vol. 97, Núm. 42
2015
-
Three cases with L1 syndrome and two novel mutations in the L1CAM gene
European Journal of Pediatrics, Vol. 174, Núm. 11, pp. 1541-1544
-
Variability in the clinical presentation of pompe disease: Development following enzyme replacement therapy
Revista de Neurologia, Vol. 61, Núm. 9, pp. 416-420
2014
-
Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity
Revista de Neurologia, Vol. 58, Núm. 4, pp. 161-165
-
Infant botulism in Andalusia (Southern Spain)
European Journal of Paediatric Neurology, Vol. 18, Núm. 3, pp. 321-326
2012
-
Guía clínica de la enfermedad de pompe de inicio tardío
Revista de Neurologia, Vol. 54, Núm. 8, pp. 497-507