The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease

Autor: José M. Millán, Menor F, Gema García-García, Ana Rodríguez-Muñoz, Miguel Tomás-Vila, Teresa Jaijo

Publikováno v: CLINICAL CHEMISTRY AND LABORATORY MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Background: Norrie disease (ND) is a rare X-linked disorder characterized by bilateral congenital blindness. ND is caused by a mutation in the Norrie disease pseudoglioma (NDP) gene, which encodes a 133-amino acid protein called norrin. Intragenic de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a5d51a46b44ded17e3311c2e46e870e
https://doi.org/10.1515/cclm-2017-0226

Clinico-radiological profile of acute disseminated encephalomyelitis in the childhood population. A retrospective analysis of a series of 20 patients in a tertiary hospital

Autor: Tomas-Vila, M, Menor, F, Otero-Reigada, MC, Perez-Tamarit, A, de Meneses, MT, Pitarch-Castellanos, I

Publikováno v: REVISTA DE NEUROLOGIA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Introduction. Acute disseminated encephalomyelitis (ADE) is an inflammatory disorder of the central nervous system that is mediated immunologically and of unknown pathogenesis. It can present at any age, but is much more frequent in children. ADE has

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::5309d25b46985e82e96108762d6777c8
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8744

Hipomielinización con atrofia de ganglios basales y de cerebelo. Aportación de dos nuevos casos a una entidad de descripción reciente

Autor: Barbero P, Marco-Hernández Av, Miguel Tomás-Vila, Ley-Martos M, Jumillas-Luján Mj, Menor F

Publikováno v: Revista de Neurología. 58:161

Introduccion. La hipomielinizacion con atrofia de ganglios basales y de cerebelo (H-ABC) es una rara entidad descrita recientemente. Se presentan dos nuevos casos pertenecientes a una misma familia. Casos clinicos. Caso 1: nino de 17 meses con retras

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::565ad2eea977c06febe4db810dd12a8a
https://doi.org/10.33588/rn.5804.2013438

[The relation between the clinical symptoms and the findings on magnetic resonance in children with periventricular leukomalacia]

Autor: Luis Marti-Bonmati, Rodrigo C, Torregrosa A, Menor F, Dosdá R, Poyatos C

Publikováno v: Europe PubMed Central

To assess whether there is a relationship between the various clinical symptoms and imaging findings on MR in children with periventricular leukomalacia (PVLM).We made a retrospective study of 41 consecutive paediatric patients, 19 boys and 22 girls,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ed28d60adfd81016f37f8fd5cc49df13
https://pubmed.ncbi.nlm.nih.gov/11562856

[Blue nevus of the prostate]

Autor: Ma, Nogueras Gimeno, Jose Miguel Sanz-Anquela, Espuela Orgaz R, Abad Menor F, Martínez Pérez E, Ja, Pérez Arbej, Arnaiz Esteban F, Fernández Rosaenz J, Guinda Sevillano C

Publikováno v: Europe PubMed Central

The presence of melanin in the prostatic gland's stroma is a histopathological finding of extreme rarity. It receives the name of blue nevus as a result of its similitude to the skin's blue nevus. The paper describes the finding of melanin stores in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d859425d04d51c917ad74ee82221e75d
https://pubmed.ncbi.nlm.nih.gov/8480519