Porphyrias, Haemochromatosis and Anemia |

Publications

2023

Sánchez-Jaut, S, Pérez-Benavente, S, Abad, P, Méndez-Cuadro, D, Puyet, A, Diez, A, Galicia-Poblet, G, Gómez-Domínguez, E, Moran-Jiménez, MJ, Bautista, JM, Azcárate, IG (2023).

Protein Susceptibility to Peroxidation by 4-Hydroxynonenal in Hereditary Hemochromatosis.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Article. 24(3).
[doi:10.3390/ijms24032922]

2022

Moreno-Risco, MB, Mendez, M, Moreno-Carralero, MI, Lopez-Moreno, AM, Vagace-Valero, JM, Moran-Jimenez, MJ (2022).

Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene

Case Reports in Pediatrics. Article. 2022:7743748-7743748.
[doi:10.1155/2022/7743748]

2021

Cervera Bravo, Aurea, Osuna Marco, Marta P., Moran-Jimenez, Maria-Jose, Martin-Hernandez, Elena (2021).

Unexpected Cause of Persistent Microcytosis and Neurological Symptoms in a Child: Niemann-Pick Disease Type C

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY. Article. 43(8):1238-1240.

Solares, I, Heredia-Mena, C, Castelbon, FJ, Jerico, D, Cordoba, KM, Fontanellas, A, de Salamanca, RE, Morales-Conejo, M (2021).

Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department

Diagnostics. Review. 11(11).
[doi:10.3390/diagnostics11112148]

Fontanellas A, Ávila MA, Arranz E, Enríquez de Salamanca R, Morales-Conejo M (2021).

Acute intermittent porphyria, givosiran, and homocysteine.

JOURNAL OF INHERITED METABOLIC DISEASE. Letter. 44(4):790-791.
[doi:10.1002/jimd.12411]

Solares I, Izquierdo-Sánchez L, Morales-Conejo M, Jericó D, Castelbón FJ, Córdoba KM, Sampedro A, Lumbreras C, Moreno-Aliaga MJ, Enríquez de Salamanca R, Berraondo P, Fontanellas A (2021).

High Prevalence of Insulin Resistance in Asymptomatic Patients with Acute Intermittent Porphyria and Liver-Targeted Insulin as a Novel Therapeutic Approach.

Biomedicines. Article. 9(3).
[doi:10.3390/biomedicines9030255]

Méndez M, Moreno-Carralero MI, Peri VL, Camacho-Galán R, Bosch-Benítez JM, Huerta-Aragonés J, Sánchez-Calero-Guilarte J, Moreno-Risco MB, Alonso-Domínguez JM, Morán-Jiménez MJ (2021).

Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene

ANNALS OF HEMATOLOGY. Article. 100(2):353-364.
[doi:10.1007/s00277-020-04319-5]

2020

Castelbon Fernandez FJ, Solares Fernandez I, Arranz Canales E, Enriquez de Salamanca Lorente R, Morales Conejo M (2020).

Protocol For Patients With Suspected Acute Porphyria.

REVISTA CLINICA ESPANOLA. Review. 220(9):592-596.
[doi:10.1016/j.rce.2019.10.012]

Jerico, D, Luis, EO, Cusso, L, Fernandez-Seara, MA, Morales, X, Cordoba, KM, Benito, M, Sampedro, A, Larriva, M, Ramirez, MJ, de Salamanca, RE, Ortiz-de-Solorzano, C, Alegre, M, Prieto, J, Lanciego, JL, D'Avola, D, Gonzalez-Aseguinolaza, G, Pastor, MA, Desco, M, Fontanellas, A (2020).

Brain ventricular enlargement in human and murine acute intermittent porphyria.

HUMAN MOLECULAR GENETICS. Article. 29(19):3211-3223.
[doi:10.1093/hmg/ddaa204]

Solares, I, Tejedor, M, Jeric, D, Morales-Conejo, M, Enríquez de Salamanca R, Fontanellas, A, Tejedor-Jorge, A (2020).

Management of hyponatremia associated with acute porphyria-proposal for the use of tolvaptan.

Annals of Translational Medicine. Review. 8(17):1098-1098.
[doi:10.21037/atm-20-1529]

Moran-Jiménez, MJ, Borrero-Corte, MJ, Jara-Rubio, F, García-Pastor, I, Díaz-Díaz, S, Castelbón-Fernandez, FJ, Enríquez-de-Salamanca, R, Méndez, M (2020).

Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.

Genes. Article. 11(8).
[doi:10.3390/genes11080924]

2019

Borrero Corte MJ, Jara Rubio F, Moran Jimenez MJ, Díaz, SD, Castelbon Fernandez FJ, Garcia Pastor I, Enriquez de Salamanca R, Méndez, M (2019).

Molecular analysis of 19 Spanish patients with mixed porphyrias.

European Journal of Medical Genetics. Article. 62(12):103589-103589.
[doi:10.1016/j.ejmg.2018.11.023]

Moreno-Carralero, MI, Arrizabalaga-Amuchastegui, B, Sanchez-Calero-Guilarte, J, Morado-Arias, M, Velasco-Valdazo, AE, de-la-Iglesia-Inigo, S, Mendez, M, Moran-Jimenez, MJ (2019).

Missense variants in ALAS2 gene in five patients

CLINICAL AND LABORATORY HAEMATOLOGY. Letter. 41(1):5-9.
[doi:10.1111/ijlh.12902]

Lillo-Triguero, L, del Castillo, A, Guzman de Villoria J, Moran-Jimenez, MJ, Guillem, A, Peraita-Adrados, R (2019).

Brain iron accumulation in a blood donor family with restless legs syndrome

REVISTA DE NEUROLOGIA. Article. 68(3):107-110.
[doi:10.33588/rn.6803.2018466]

2018

de la Mano, EP, Martin-Sanchez, G, Lopez, RL, Galan, MAF, Rios, ST, Jimenez, MJM, de Morales, JMGR, Santos, MAC, Nunez, GM (2018).

Peliosis hepatis associated with follicular lymphoma with a rise in vascular endothelial growth factor and anaemia of inflammation

eCancerMedicalScience. Article. 12:882-882.
[doi:10.3332/ecancer.2018.882]

Serrano-Mendioroz, I, Sampedro, A, Serna, N, Salamanca RE, Sanz-Parra, A, Corrales, F, Berraondo, P, Millet, O, Fontanellas, A (2018).

Bioengineered PBGD variant improves the therapeutic index of gene therapy vectors for acute intermittent porphyria

HUMAN MOLECULAR GENETICS. Article. 27(21):3688-3696.
[doi:10.1093/hmg/ddy283]

Granata, F, Mendez, M, Brancaleoni, V, Castelbon, FJ, Graziadei, G, Ventura, P, Di Pierro, E (2018).

Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP)

MOLECULAR GENETICS AND METABOLISM. Article. 125(3):295-301.
[doi:10.1016/j.ymgme.2018.09.002]

Moreno-Carralero, MI, Horta-Herrera, S, Morado-Arias, M, Ricard-Andres, MP, Lemes-Castellano, A, Abio-Calvete, M, Cedena-Romero, MT, Gonzalez-Fernandez, FA, Llorente-Gonzalez, L, Periago-Peralta, AM, de-la-Iglesia-Inigo, S, Mendez, M, Moran-Jimenez, MJ (2018).

Clinical and genetic features of congenital dyserythropoietic anemia (CDA)

EUROPEAN JOURNAL OF HAEMATOLOGY. Article. 101(3):368-378.
[doi:10.1111/ejh.13112]

Serrano-Mendioroz, I, Sampedro, A, Alegre, M, Enriquez de Salamanca R, Berraondo, P, Fontanellas, A (2018).

An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria

HUMAN GENE THERAPY. Article. 29(4):480-491.
[doi:10.1089/hum.2017.056]

2017

Azcárate IG, Sánchez-Jaut S, Marín-García P, Linares M, Pérez-Benavente S, García-Sánchez M, Uceda J, Kamali AN, Morán-Jiménez MJ, Puyet A, Diez A, Bautista JM (2017).

Iron supplementation in mouse expands cellular innate defences in spleen; and defers lethal malaria infection

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. Article. 1863(12):3049-3059.
[doi:10.1016/j.bbadis.2017.09.027]

Lora D, Gómez de la Cámara A, Fernández SP, Enríquez de Salamanca R, Gómez JFPR (2017).

Prognostic models for locally advanced cervical cancer: external; validation of the published models

Journal of Gynecologic Oncology. Article. 28(5).
[doi:10.3802/jgo.2017.28.e58]

de-la-Iglesia-Iñigo S, Moreno-Carralero MI, Lemes-Castellano A, Molero-Labarta T, Méndez M, Morán-Jiménez MJ (2017).

A case of congenital dyserythropoietic anemia type IV

Clinical Case Reports. Article. 5(3):248-252.
[doi:10.1002/ccr3.825]

Del Saz Moreno V, Alberquilla Menéndez-Asenjo Á, Camacho Hernández AM, Lora Pablos D, Enríquez de Salamanca Lorente R, Magán Tapia P (2017).

Hospitalization analysis of the influence of the process of care in; primary health care on avoidable hospitalizations for heart failure (vol; 48, pg 102, 2016)

Atencion Primaria. Correction. 49(1):63-63.
[doi:10.1016/j.aprim.2016.12.002]

2016

Galicia-Poblet, G, Cid-Paris, E, Lopez-Andres, N, Losada-Pajares, A, Jurado-Lopez, JC, Moreno-Carralero, MI, Moran-Jimenez, MJ (2016).

Pediatric Ferroportin Disease

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION. Article. 63(6):205-207.
[doi:10.1097/MPG.0000000000000648]

D'Avola D, López-Franco E, Sangro B, Pañeda A, Grossios N, Gil-Farina I, Benito A, Twisk J, Paz M, Ruiz J, Schmidt M, Petry H, Harper P, de Salamanca RE, Fontanellas A, Prieto J, González-Aseguinolaza G (2016).

Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria

JOURNAL OF HEPATOLOGY. Article. 65(4):776-783.
[doi:10.1016/j.jhep.2016.05.012]

Méndez M, Moreno-Carralero MI, Morado-Arias M, Fernández-Jiménez MC, de la Iglesia Iñigo S, Morán-Jiménez MJ (2016).

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.

Molecular Genetics & Genomic Medicine. Article. 4(3):273-282.
[doi:10.1002/mgg3.202]

Collantes, Maria, Serrano-Mendioroz, Irantzu, Benito, Marina, Molinet-Dronda, Francisco, Delgado, Mercedes, Vinaixa, Maria, Sampedro, Ana, Enriquez de Salamanca, Rafael, Prieto, Elena, Pozo, Miguel A., Penuelas, Ivan, Corrales, Fernando J., Barajas, Miguel, Fontanellas, Antonio (2016).

Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency

HUMAN MOLECULAR GENETICS. Article. 25(7):1318-1327.
[doi:10.1093/hmg/ddw013]

Del Saz Moreno V, Alberquilla Menéndez-Asenjo Á, Camacho Hernández AM, Lora Pablos D, Enríquez de Salamanca Lorente R, Magán Tapia P (2016).

Analysis of the influence of the process of care in primary health care on avoidable hospitalizations for heart failure

Atencion Primaria. Abstract of Published Item. 48(2):102-109.
[doi:10.1016/j.aprim.2014.11.013]

2015

Unzu C, Melero I, Hervás-Stubbs S, Sampedro A, Mancheño U, Morales-Kastresana A, Serrano-Mendioroz I, de Salamanca RE, Benito A, Fontanellas A (2015).

Helper-dependent adenovirus achieve more efficient and persistent liver transgene expression in non-human primates under immunosuppression

GENE THERAPY. Article. 22(11):856-865.
[doi:10.1038/gt.2015.64]

Lopez-Santamaria Castro, C., Valdivielso Lopez, A., Cuadrado Orden, I, Luno Fernandez, E., Moran Jimenez, M. J., Sanchez, M. (2015).

IRON OVERLOAD IN YOUNG PATIENT

HAEMATOLOGICA. Meeting Abstract. 100(4):94-95.

Serrano-Mendioroz I, Sampedro A, Mora MI, Mauleón I, Segura V, Enríquez de Salamanca R, Harper P, Sardh E, Corrales FJ, Fontanellas A (2015).

Vitamin D-binding protein as a biomarker of active disease in acute intermittent porphyria

Journal of Proteomics. Article. 127(B):377-385.
[doi:10.1016/j.jprot.2015.05.004]

Rollon, Noelia, Cristina Fernandez-Jimenez, Maria, Isabel Moreno-Carralero, Maria, Jose Murga-Fernandez, Maria, Josefa Moran-Jimenez, Maria (2015).

Microcytic anemia in a pregnant woman: beyond iron deficiency

INTERNATIONAL JOURNAL OF HEMATOLOGY. Article. 101(5):514-519.
[doi:10.1007/s12185-014-1723-7]

2014

D'Avola, Delia, Lopez-Franco, Esperanza, Harper, Pauline, Fontanellas, Antonio, Grosios, Nadina, Henrichson, Ann, Salmon, Florence, Abecia, Sara, Paneda, Astrid, Paz, Maria, Urdaneta, Matilde, Cornet, Maria Eugenia, Municio, Maria del Mar, Ruiz, Juan, Troconiz, Inaki, Kaeppel, Christine, von Kalle, Christof, Schmidt, Manfred, Petry, Harald, Sangro, Bruno, de Salamanca, Rafael Enriquez, Prieto, Jesus, Gonzalez-Aseguinolaza, Gloria (2014).

Phase 1 clinical trial of liver directed gene therapy with rAAV5/2-PBGD in acute intermittent porphyria: safety data

HUMAN GENE THERAPY. Meeting Abstract. 25(11):36-36.

Lillo-Triguero, Laura, Del Castillo, Alejandro, Moran-Jimenez, Maria-Jose, Guzman-De Villoria, Juan A., Guillem, Amparo, Peraita-Adrados, Rosa (2014).

Brain iron accumulation in dysmetabolic iron overload syndrome with restless legs syndrome

SLEEP MEDICINE. Editorial Material. 15(8):1004-1005.
[doi:10.1016/j.sleep.2014.03.018]

Moreno-Carralero MI, Muñoz-Muñoz JA, Cuadrado-Grande N, López-Rodríguez R, José Hernández-Alfaro M, Del-Castillo-Rueda A, Enríquez-de-Salamanca R, Méndez M, Morán-Jiménez MJ (2014).

A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro.

AMERICAN JOURNAL OF HEMATOLOGY. Article. 89(7):689-694.
[doi:10.1002/ajh.23714]

D'Avola, Delia, Lopez-Franco, Esperanza, Harper, Pauline, Fontanellas, Antonio, Grosios, Nadina, Sangro, Bruno, Henrichson, Ann, Salmon, Florence, Abecia, Sara, Paneda, Astrid, Paz, Maria, Eugenia Cornet, Maria, Del Municio, Maria, Troconiz, Inaki, Kaeppel, Christine, Ruiz, Juan, von Kalle, Christof, Schmidt, Manfred, Petry, Harald, Enriquez de Salamanca, Rafael, Prieto, Jesus, Gonzalez-Aseguinolaza, Gloria (2014).

Phase 1 Clinical Trial of Liver Directed Gene Therapy With rAAV5-PBGD in Acute Intermittent Porphyria: Preliminary Safety Data

MOLECULAR THERAPY. Meeting Abstract. 22(1):7-7.

D'Avola, D., Lopez-Franco, E., Harper, P., Fontanellas, A., Grosios, N., Sangro, B., Henrichson, A., Salmon, F., Fuertes, C., Abecia, S., Paneda, A., Paz, M., Cornet, M. E., Municio, M. D. M., Troconiz, I., Kaeppel, C., Juan, R., von Kalle, C., Schmidt, M., Petry, H., Gonzalez-Aseguinolaza, G., Enriquez de Salamanca, R., Prieto, J. (2014).

PHASE 1 CLINICAL TRIAL OF LIVER DIRECTED GENE THERAPY WITH rAAV5-PBGD IN ACUTE INTERMITTENT PORPHYRIA: PRELIMINARY SAFETY DATA

JOURNAL OF HEPATOLOGY. Meeting Abstract. 60(1, S):58-58.
[doi:10.1016/S0168-8278(14)60140-9]

2013

Allo G, Garrido-Astray, MD, De Salamanca RE, Martínez G, Hawkins F (2013).

Bone mineral density and vitamin D levels in erythropoietic protoporphyria

ENDOCRINE. Article. 44(3):803-807.
[doi:10.1007/s12020-013-9934-x]

Unzu, Carmen, Sampedro, Ana, Mauleon, Itsaso, Gonzalez-Aparicio, Manuela, Enriquez de Salamanca, Rafael, Prieto, Jesus, Aragon, Tomas, Fontanellas, Antonio (2013).

Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice

HUMAN MOLECULAR GENETICS. Article. 22(14):2929-2940.
[doi:10.1093/hmg/ddt148]

Gómez-Abecia S, Morán-Jiménez MJ, Ruiz-Casares E, Henriques-Gil N, García-Pastor I, Garrido-Astray MC, Enríquez de Salamanca R, Méndez M (2013).

Familial porphyria cutanea tarda in Spain: Characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation

GENE. Article. 522(1):89-95.
[doi:10.1016/j.gene.2013.03.074]

Colombo FP, Rossetti MV, Méndez M, Martínez JE, Enríquez de Salamanca R, Del C Batlle AM, Parera VE (2013).

Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. Article. 27(6):754-762.
[doi:10.1111/j.1468-3083.2012.04566.x]

Munoz-Munoz, J., Cuadrado-Grande, N., Moreno-Carralero, M-I, Hoyos-Sanabria, B., Manubes-Guarch, A., Gonzalez, A-F, Tejada-Palacios, P., del-Castillo-Rueda, A., Moran-Jimenez, M-J (2013).

Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene

CLINICAL GENETICS. Letter. 83(5):491-493.
[doi:10.1111/j.1399-0004.2012.01934.x]

Vegh, I., Grau, M., Gracia, M., Grande, J., de la Torre, P., Flores, A. I. (2013).

Decidua mesenchymal stem cells migrated toward mammary tumors in vitro and in vivo affecting tumor growth and tumor development

CANCER GENE THERAPY. Article. 20(1):8-16.
[doi:10.1038/cgt.2012.71]

2012

del-Castillo-Rueda, Alejandro, Moreno-Carralero, Maria-Isabel, Cuadrado-Grande, Nuria, Alvarez-Sala-Walther, Luis-Antonio, Enriquez-de-Salamanca, Rafael, Mendez, Manuel, Moran-Jimenez, Maria-Josefa (2012).

Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis

GENE. Article. 508(1):15-20.
[doi:10.1016/j.gene.2012.07.069]

Unzu, Carmen, Hervas-Stubbs, Sandra, Sampedro, Ana, Mauleon, Itsaso, Mancheno, Uxua, Alfaro, Carlos, Enriquez de Salamanca, Rafael, Benito, Alberto, Beattie, Stuart G., Petry, Harald, Prieto, Jesus, Melero, Ignacio, Fontanellas, Antonio (2012).

Transient and intensive pharmacological immunosuppression fails to improve AAV-based liver gene transfer in non-human primates

Journal of Translational Medicine. Article. 10(122):122-122.
[doi:10.1186/1479-5876-10-122]

Qiao, Bo, Sugianto, Priscilla, Fung, Eileen, del-Castillo-Rueda, Alejandro, Moran-Jimenez, Maria-Josefa, Ganz, Tomas, Nemeth, Elizabeta (2012).

Hepcidin-Induced Endocytosis of Ferroportin Is Dependent on Ferroportin Ubiquitination

Cell Metabolism. Article. 15(6):918-924.
[doi:10.1016/j.cmet.2012.03.018]

Barrios, Marta, Moreno-Carralero, Maria-Isabel, Cuadrado-Grande, Nuria, Baro, Maria, Vivanco, Jose-Luis, Moran-Jimenez, Maria-Josefa (2012).

The homozygous mutation G75R in the human SLC11A2 gene leads to microcytic anaemia and iron overload

BRITISH JOURNAL OF HAEMATOLOGY. Letter. 157(4):514-516.
[doi:10.1111/j.1365-2141.2012.09043.x]

Mendez, Manuel, Victoria Rossetti, Maria, Gomez-Abecia, Sara, Moran-Jimenez, Maria-Josefa, Parera, Victoria, Batlle, Alcira, Enriquez de Salamanca, Rafael (2012).

Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations

MOLECULAR GENETICS AND METABOLISM. Article. 105(4):629-633.
[doi:10.1016/j.ymgme.2012.02.002]

Unzu, Carmen, Sampedro, Ana, Sardh, Eliane, Mauleon, Itsaso, Enriquez de Salamanca, Rafael, Prieto, Jesus, Salido, Eduardo, Harper, Pauline, Fontanellas, Antonio (2012).

Renal Failure Affects the Enzymatic Activities of the Three First Steps in Hepatic Heme Biosynthesis in the Acute Intermittent Porphyria Mouse

PLoS One. Article. 7(3).
[doi:10.1371/journal.pone.0032978]

2011

del Castillo Rueda, Alejandro, Cuadrado Grande, Nuria, Alvarez Fernandez, Emilio, Enriquez de Salamanca, Rafael, Alvarez Sala, Luis Antonio, Moran Jimenez, Maria Josefa (2011).

Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis

REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS. Article. 103(7):379-382.
[doi:10.4321/S1130-01082011000700010]

del Castillo-Rueda, Alejandro, Isabel Moreno-Carralero, Maria, Cuadrado-Grande, Nuria, Mendez, Manuel, Josefa Moran-Jimenez, Maria (2011).

Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study

MEDICINA CLINICA. Editorial Material. 137(2):68-72.
[doi:10.1016/j.medcli.2011.02.023]

Morales-Gutierrez, C., Abad-Barahona, A., Moreno-Gonzalez, E., Enriquez de Salamanca, R., Vegh, I. (2011).

Tumour VEGF/Non Tumour VEGF protein expression ratio as a biomarker for survival in colorectal cancer patients

EJSO. Article. 37(6):526-531.
[doi:10.1016/j.ejso.2011.02.005]

del-Castillo-Rueda, Alejandro, Moreno-Carralero, Maria-Isabel, Alvarez-Sala-Walther, Luis-Antonio, Cuadrado-Grande, Nuria, Enriquez-de-Salamanca, Rafael, Mendez, Manuel, Moran-Jimenez, Maria-Josefa (2011).

Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man

EUROPEAN JOURNAL OF HAEMATOLOGY. Article. 86(3):260-264.
[doi:10.1111/j.1600-0609.2010.01565.x]

Unzu, Carmen, Sampedro, Ana, Mauleon, Itsaso, Alegre, Manuel, Beattie, Stuart G., Enriquez de Salamanca, Rafael, Snapper, Jolanda, Twisk, Jaap, Petry, Harald, Gonzalez-Aseguinolaza, Gloria, Artieda, Julio, Rodriguez-Pena, Maria Sol, Prieto, Jesus, Fontanellas, Antonio (2011).

Sustained Enzymatic Correction by rAAV-Mediated Liver Gene Therapy Protects Against Induced Motor Neuropathy in Acute Porphyria Mice

MOLECULAR THERAPY. Article. 19(2):243-250.
[doi:10.1038/mt.2010.210]

2010

Alvarez-Coca-Gonzalez, Javier, Moreno-Carralero, Maria-Isabel, Martinez-Perez, Jorge, Mendez, Manuel, Garcia-Ros, Marta, Moran-Jimenez, Maria-Josefa (2010).

The hereditary hyperferritinemia-cataract syndrome: a family study

EUROPEAN JOURNAL OF PEDIATRICS. Article. 169(12):1553-1555.
[doi:10.1007/s00431-010-1251-2]

Cabrera-Meiras, F., Duque-Ruiz, G., Martinez-Silva, V. M., Leiva-Galvis, O. (2010).

Primitive neuroectodermical tumour of the kidney: Case report

Actas Urologicas Espanolas. Letter. 34(8):730-732.
[doi:10.1016/j.acuro.2010.02.038]

Fontanellas, Antonio, Martinez-Fresno, Maria, Concepcion Garrido-Astray, Maria, Perucho, Teresa, Moran-Jimenez, Maria-Josefa, Garcia-Bravo, Maria, Mendez, Manuel, Poblete-Gutierrez, Pamela, Frank, Jorge, Henriques-Gil, Nuno, Enriquez de Salamanca, Rafael (2010).

Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda

EXPERIMENTAL DERMATOLOGY. Article. 19(8):326-328.
[doi:10.1111/j.1600-0625.2009.01040.x]

Moran-Jimenez, Maria-Josefa, Mendez, Manuel, Santiago, Begona, Moreno-Carraiero, Maria-Isabel, Sanchez-Lucio, Ana-Cristina, Grau, Montserrat, Enriquez-de-Salamanca, Rafael (2010).

Hepcidin treatment in Hfe-/- mice diminishes plasma iron without affecting erythropoiesis

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION. Article. 40(6):511-517.
[doi:10.1111/j.1365-2362.2010.02291.x]

Miranda Utrera, N., Pamplona Casamayor, M., Guerrero Ramos, F., Leiva Galvis, O. (2010).

Congenital renal arteriovenous malformation: the value of magnetic resonance imaging for dignosis and intravascular management

Actas Urologicas Espanolas. Letter. 34(2):215-217.