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발행년	- (예 : 2010-2015)

Arginine-guanidinoacetate-creatine pathway in preterm newborns: Creatine biosynthesis in newborns

Academic Journal

Lage, S.; Andrade, F.; Prieto, J.A.; Ruiz, N.; Sanjurjo, P.; Aldámiz-Echevarría, L.; Asla, I.; Rodríguez, A.; Echeverría, J.; Luz Couce, M.

In: Journal of Pediatric Endocrinology and Metabolism. (Journal of Pediatric Endocrinology and Metabolism, February 2013, 26(1-2):53-60)

Full Text(De Gruyter) Web of Science JCR 저널정보 Scopus Find it@PNU

Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism

Academic Journal

Rebollido-Fernandez, M.M.; Castiñeiras, D.E.; Dolores Bõveda, M.; Cocho, J.A.; Luz Couce, M.; Fraga, J.M.

In: Rapid Communications in Mass Spectrometry. (Rapid Communications in Mass Spectrometry, 30 September 2012, 26(18):2131-2144)

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

Epidemiological study of the metabolic diseases with homocystinuria in Spain

Academic Journal

García-Jiménez, M.C.; Baldellou, A.; García-Silva, M.T.; Dalmau-Serra, J.; García-Cazorla, A.; Gómez-López, L.; Lambruschini, N.; Pedrón Giner, C.; Alonso Luengo, O.; Peña Quintana, L.; Luz Couce, M.; Martínez-Pardo, M.

In: Anales de Pediatria. (Anales de Pediatria, March 2012, 76(3):133-139)

Full Text (ScienceDirect 종량제) Web of Science JCR 저널정보 Scopus Find it@PNU

Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh

Academic Journal

Barreiro, J.; Castro-Feijoo, L.; Cabanas, P.; Heredia, C.; Pombo, M.; Alonso-Fernández, J.R.; Colón, C.; Luz Couce, M.; Castaño, L.A.; Gómez-Lado, C.

In: JCRPE Journal of Clinical Research in Pediatric Endocrinology. (JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2011, 3(4):208-211)

EBSCOHost PDF Web of Science JCR 저널정보 Scopus Find it@PNU

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

Academic Journal

Medrano, Celia; Vega, Ana; Navarrete, Rosa; Jesus Ecay, M.; Calvo, Rocio; Ignacio Pascual, Samuel; Ruiz-Pons, Monica; Toledo, Laura; Garcia-Jimenez, Inmaculada; Arroyo, Ignacio; Campo, Andrea; Luz Couce, M.; Rosario Domingo-Jimenez, M.; Teresa Garcia-Silva, M.; Gonzalez-Gutierrez-Solana, Luis; Hierro, Loreto; Martin-Hernandez, Elena; Martinez-Pardo, Mercedes; Roldan, Susana; Tomas, Miguel; Cabrera, Jose C.; Martinez-Bugallo, Francisco; Martin-Viota, Lucia; Vitoria-Minana, Isidro; Lefeber, Dirk J.; Luisa Giros, M.; Serrano Gimare, Mercedes; Ugarte, Magdalena; Perez, Belen; Perez-Cerda, Celia

CLINICAL GENETICS; MAY 2019, 95 5, p615-p626, 12p.

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism

Academic Journal

Maira Rebollido-Fernandez, M.; Castineiras, Daisy E.; Dolores Boveda, M.; Luz Couce, M.; Cocho, Jose A.; Fraga, Jose M.

RAPID COMMUNICATIONS IN MASS SPECTROMETRY; SEP 30 2012, 26 18, p2131-p2144, 14p.

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

New CTSA mutation in early infantile galactosialidosis

Academic Journal

Aldamiz-Echevarria, Luis; Luz Couce, M.; Villate, Olatz; Fernandez-Marmiesse, Ana; Angeles Pinan, M.

PEDIATRICS INTERNATIONAL; AUG 2018, 60 8, p761-p762, 2p.

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Identification of Three Novel GLI2 Gene Variants Associated with Hypopituitarism

Academic Journal

Castro-Feijoo, Lidia; Cabanas, Paloma; Barreiro, Jesus; Silva, Paula; Luz Couce, M.; Pombo, Manuel; Loidi, Lourdes

HORMONE RESEARCH IN PAEDIATRICS; 2018, 90 p388-p389, 2p. Supplement: 1

Full Text (Karger) Web of Science JCR 저널정보 Find it@PNU

Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement

Academic Journal

Perez-Lopez, Jordi; Ceberio-Hualde, Leticia; Garcia Morillo, Jose Salvador; Grau-Junyent, Josep M.; Hermida Ameijeiras, Alvaro; Lopez-Rodriguez, Monica; Morales-Conejo, Montserrat; Nava Mateos, Juan Jose; Echevarri Azuara, Luis Jose Aldamiz; Campistol, Jaume; Luz Couce, M.; Garcia-Silva, Maria Teresa; Gonzalez Gutierrez-Solana, Luis; Del Toro, Mireia; Soc Espanola Med Interna; Soc Espanola Neurologia Pediat SEN

MEDICINA CLINICA; DEC 2 2016, 147 11, p506-p506, 1p.

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