Zobrazeno 1 - 10 of 277 pro vyhledávání: '"Couce ML"'
1
The LINCE Project: A Pathway for Diagnosing NCL2 Disease
Autor: Rodrigues D, de Castro MJ, Crujeiras P, Duat-Rodriguez A, Marco AV, Del Toro M, Couce ML, Colón C
Publikováno v: Frontiers in pediatrics
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
INTRODUCTION: Neuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders. Neuronal Ceroid lipofuscinosis type 2 disease (NCL2), caused by the deficient lysosomal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::2c726f01b7496c9312dff2a66d115e1a
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=16608
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2
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1
Autor: Sánchez-Lijarcio O, Yubero-Siles D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, Garcia-Cazorla A, Pias-Peleteiro LD, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch-Iriberri R, Pérez-Dueñas B
Publikováno v: CLINICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood-brain barrier. This work descri
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::6e22da944f17137f9fd604b39dd4c69f
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21389
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3
Post-authorization safety study of Betaine anhydrous
Autor: Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Ramadža DP, Baumgartner MR, Cano A, Jiménez MCG, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Olivas SM, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V, Kölker S
Publikováno v: JOURNAL OF INHERITED METABOLIC DISEASE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Patient registries for rare diseases enable systematic data collection and can also be used to facilitate post-authorization safety studies (PASS) for orphan drugs. This study evaluates the PASS for betaine anhydrous (Cystadane®), conducted as publi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::ab6229611621f5b59740db376b00da3c
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=15641
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4
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome
Autor: Barbosa-Gouveia S, Vázquez-Mosquera ME, Gonzalez-Vioque E, Hermida-Ameijeiras Á, Valverde LL, Armstrong-Moron J, Fons-Estupiña MDC, Wintjes LT, Kappen A, Rodenburg RJ, Couce ML
Publikováno v: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Mitochondrial functional integrity depends on protein and lipid homeostasis in the mitochondrial membranes and disturbances in their accumulation can cause disease. AGK, a mitochondrial acylglycerol kinase, is not only involved in lipid signaling but
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::2c60164b58a32126aa20155a85b6b850
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20466
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5
Sedoanalgesia en las unidades neonatales
Autor: Espinosa Fernández MG, González-Pacheco N, Sánchez-Redondo MD, Cernada M, Martín-Ancel A, Pérez-Muñuzuri A, Boix H, Couce ML, en representación del Comité de Estándares. Sociedad Española de Neonatología
Publikováno v: ANALES DE PEDIATRIA
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Pain recognition and management continues to be a challenge for health professionals in Neonatal Intensive Care Units. They are routinely exposed to repeated painful experiences with demonstrated short- and long-term consequences. Preterm babies are
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::38e69ae1f154b07b88c29718abe1c597
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18521
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6
Recommendations on the skills profile and standards of the neonatal transportsystem in Spain
Autor: Lucas, RJ, Boix, H, Garcia, LS, Cernada, M, Cuevas, IDL, Couce, ML
Publikováno v: ANALES DE PEDIATRIA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
The first hours of life of a sick or premature newborn are crucial for its prognosis andtherefore delivery should take place in a center prepared for that degree of complexity. Whenthis condition is not met, the newborn must be transferred in an opti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::304e7c5585b118d423e2bc895071816f
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=14542
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7
BMP8 and activated brown adipose tissue in human newborns
Autor: Urisarri A, González-García I, Estévez-Salguero Á, Pata MP, Milbank E, López N, Mandiá N, Grijota-Martinez C, Salgado CA, Nogueiras R, Diéguez C, Villarroya F, Fernández-Real JM, Couce ML, López M
Publikováno v: NATURE COMMUNICATIONS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The classical dogma states that brown adipose tissue (BAT) plays a major role in the regulation of temperature in neonates. However, although BAT has been studied in infants for more than a century, the knowledge about its physiological features at t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::34e857d37855ca7618ea65d7a51a8e01
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20057
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9
The Influence of Donor Milk Supplementation on Duration of Parenteral Nutrition in Preterm Infants
Autor: Chinea Jiménez B, Cabrera Lafuente M, Couce ML, Madero R, Vento M, Villarino Marín A, Saenz de Pipaon M
Publikováno v: JOURNAL OF HUMAN LACTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Data are limited on the association between the use of donor human milk and improvements in feeding tolerance.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::e4099aa8b02279cc2ff5082de3124164
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=11535
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10
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism
Autor: Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S, Garcia-Cazorla A
Publikováno v: SCIENTIFIC REPORTS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Patients with inborn errors of amino acid metabolism frequently show neuropsychiatric symptoms despite accurate metabolic control. This study aimed to gain insight into the underlying mechanisms of neural dysfunction. Here we analyzed the expression
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::08dca808cc99002406cabc093de81f99
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16383
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