Esperanza Castejon
Overview
Explore the profile of Esperanza Castejon including associated specialties, affiliations and a list of published articles.
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Articles
9
Citations
99
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0
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Recent Articles
1.
Casas-Alba D, Martinez-Monseny A, Pino-Ramirez R, Alsina L, Castejon E, Navarro-Vilarrubi S, et al.
Hum Mutat
. 2018 Sep;
39(12):1752-1763.
PMID: 30176098
Hyaline fibromatosis syndrome (HFS) is the unifying term for infantile systemic hyalinosis and juvenile hyaline fibromatosis. HFS is a rare autosomal recessive disorder of the connective tissue caused by mutations...
2.
Sariego-Jamardo A, Garcia-Cazorla A, Artuch R, Castejon E, Garcia-Arenas D, Molero-Luis M, et al.
Pediatr Neurol
. 2015 Oct;
53(5):422-6.
PMID: 26476148
Objective: The mechanisms of the ketogenic diet remain unclear, but several predictors of response have been proposed. We aimed is to study the relationship between the etiology of epilepsy, cerebrospinal...
3.
Yubero D, OCallaghan M, Montero R, Ormazabal A, Armstrong J, Espinos C, et al.
BMC Pediatr
. 2014 Nov;
14:284.
PMID: 25381171
Background: It has been demonstrated that glucose transporter (GLUT1) deficiency in a mouse model causes a diminished cerebral lipid synthesis. This deficient lipid biosynthesis could contribute to secondary CoQ deficiency....
4.
Casado M, Altimira L, Montero R, Castejon E, Nascimento A, Perez-Duenas B, et al.
Anal Bioanal Chem
. 2014 May;
406(18):4337-43.
PMID: 24788891
The most widely used method for the biochemical screening of oligosaccharidoses is the analysis of the urinary oligosaccharide pattern by thin-layer chromatography on silica gel plates. However, this method is...
5.
Ulate-Campos A, Fons C, Artuch R, Castejon E, Martorell L, Ozelius L, et al.
Pediatr Neurol
. 2014 Feb;
50(4):377-9.
PMID: 24491413
Background: Alternating hemiplegia of childhood (AHC) is a rare condition characterized by an early onset of hemiplegic episodes and other paroxysmal or permanent neurological dysfunctions. Recently, mutations in the ATP1A3...
6.
Garcia-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejon E, Ruiz-Sala P, et al.
Hum Mutat
. 2014 Jan;
35(4):470-7.
PMID: 24449431
Inactivating mutations in the BCKDK gene, which codes for the kinase responsible for the negative regulation of the branched-chain α-keto acid dehydrogenase complex (BCKD), have recently been associated with a...
7.
Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, et al.
Mol Genet Metab
. 2013 Jul;
110(3):231-6.
PMID: 23890588
Our aim was to report two new cases of hyperlysinemia type I describing the clinical, biochemical and molecular features of the disease and the outcome of lysine restriction. Two children...
8.
Mur Sierra A, Diaz F, Castejon E, Lopez-Vilchez M, Sanjuan G, Martin I, et al.
Med Clin (Barc)
. 2010 Jun;
135(12):537-42.
PMID: 20542525
Background And Objectives: To describe the characteristics of immigrant women's newborns in our environment, and to compare them with those of native women. Patients And Methods: All newborns attended in...
9.
de Carpi J, Castejon E, Masiques L, Vilar P, Anton J, Varea V
J Pediatr Gastroenterol Nutr
. 2007 Jan;
44(2):274-8.
PMID: 17255845
No abstract available.