Severe infantile acute encephalopathy and COG4 mutation: CDG IIJ
Felipe Rucián, Ana, Macaya Ruiz, Alfons, del Toro Riera, Mireia, Girós, M
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia
Bastida, J. M., Benito, R., Janusz, K., Díez‐Campelo, M., Hernández‐Sánchez, J. M., Marcellini, S., Girós, M., Rivera, J., Lozano, M. L., Hortal, A., Hernández‐Rivas, J. M., González‐Porras, J. R.
Published in Journal of thrombosis and haemostasis (01.09.2017)
Published in Journal of thrombosis and haemostasis (01.09.2017)
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Journal Article
X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females
Coll, MJ, Palau, N, Camps, C, Ruiz, M, Pàmpols, T, Girós, M
Published in Clinical genetics (01.05.2005)
Published in Clinical genetics (01.05.2005)
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Journal Article
Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain
Medrano, Celia, Vega, Ana, Navarrete, Rosa, Ecay, M. Jesús, Calvo, Rocío, Pascual, Samuel Ignacio, Ruiz‐Pons, Mónica, Toledo, Laura, García‐Jiménez, Inmaculada, Arroyo, Ignacio, Campo, Andrea, Couce, M. Luz, Domingo‐Jiménez, M. Rosario, García‐Silva, M. Teresa, González‐Gutiérrez‐Solana, Luis, Hierro, Loreto, Martín‐Hernández, Elena, Martínez‐Pardo, Mercedes, Roldán, Susana, Tomás, Miguel, Cabrera, Jose C., Mártinez‐Bugallo, Francisco, Martín‐Viota, Lucía, Vitoria‐Miñana, Isidro, Lefeber, Dirk J., Girós, M. Luisa, Serrano Gimare, Mercedes, Ugarte, Magdalena, Pérez, Belén, Pérez‐Cerdá, Celia
Published in Clinical genetics (01.05.2019)
Published in Clinical genetics (01.05.2019)
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Journal Article
Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation
Briones, P., Girós, M., Martinez, V.
Published in Journal of inherited metabolic disease (01.02.2001)
Published in Journal of inherited metabolic disease (01.02.2001)
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Journal Article
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature
Cañueto, J., Girós, M., Ciria, S., Pi-Castán, G., Artigas, M., García-Dorado, J., García-Patos, V., Virós, A., Vendrell, T., Torrelo, A., Hernández-Martín, Á., Martín-Hernández, E., Garcia-Silva, M.T., Fernández-Burriel, M., Rosell, J., Tejedor, M., Martínez, F., Valero, J., García, J.L., Sánchez-Tapia, E.M., Unamuno, P., González-Sarmiento, R.
Published in British journal of dermatology (1951) (01.04.2012)
Published in British journal of dermatology (1951) (01.04.2012)
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Journal Article
Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis
Pilo de la Fuente, B., Sobrido, M.J., Girós, M., Pozo, L., Lustres, M., Barrero, F., Macarrón, J., Díaz, M., Jiménez-Escrig, A.
Published in Neurología (Barcelona, English ed. ) (01.09.2011)
Published in Neurología (Barcelona, English ed. ) (01.09.2011)
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Journal Article
Utilidad de los niveles de colestanol en el diagnóstico y seguimiento de los pacientes con xantomatosis cerebrotendinosa
Pilo de la Fuente, B, Sobrido, M.J, Girós, M, Pozo, L, Lustres, M, Barrero, F, Macarrón, J, Díaz, M, Jiménez-Escrig, A
Published in Neurología (Barcelona, Spain) (01.09.2011)
Published in Neurología (Barcelona, Spain) (01.09.2011)
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Journal Article
Cerebrotendinous xanthomatosis without tendinous xanthomas: presentation of two cases
Campdelacreu, J, Muñoz, E, Cervera, A, Jaumà, S, Girós, M, Tolosa, E
Published in Neurología (Barcelona, Spain) (01.12.2002)
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Published in Neurología (Barcelona, Spain) (01.12.2002)
Journal Article
Zellweger syndrome. Reports on two new cases
Cáceres-Marzal, C, Vaquerizo-Madrid, J, Girós, M, Ruiz, F, Roels, F
Published in Revista de neurologiá (01.06.2003)
Published in Revista de neurologiá (01.06.2003)
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Journal Article
Long survival in a case of peroxisomal biogenesis disorder with peroxisome mosaicism in the liver
Girós, M, Roels, F, Prats, J, Ruiz, M, Ribes, A, Espeel, M, Wanders, R J, Schutgens, R B, Pámpols, T
Published in Annals of the New York Academy of Sciences (01.12.1996)
Published in Annals of the New York Academy of Sciences (01.12.1996)
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Journal Article
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations
Witsch-Baumgartner, M, Schwentner, I, Gruber, M, Benlian, P, Bertranpetit, J, Bieth, E, Chevy, F, Clusellas, N, Estivill, X, Gasparini, G, Giros, M, Kelley, R I, Krajewska-Walasek, M, Menzel, J, Miettinen, T, Ogorelkova, M, Rossi, M, Scala, I, Schinzel, A, Schmidt, K, Schönitzer, D, Seemanova, E, Sperling, K, Syrrou, M, Talmud, P J, Wollnik, B, Krawczak, M, Labuda, D, Utermann, G
Published in Journal of medical genetics (01.04.2008)
Published in Journal of medical genetics (01.04.2008)
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Journal Article
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism
Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith
Published in PloS one (31.05.2016)
Published in PloS one (31.05.2016)
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Journal Article
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome
Witsch-Baumgartner, M, Gruber, M, Kraft, H G, Rossi, M, Clayton, P, Giros, M, Haas, D, Kelley, R I, Krajewska-Walasek, M, Utermann, G
Published in Journal of medical genetics (01.08.2004)
Published in Journal of medical genetics (01.08.2004)
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Journal Article
Mutational spectrum of classical galactosaemia in Spain and Portugal
Gort, L., Boleda, M. D., Tyfield, L., Vilarinho, L., Rivera, I., Cardoso, M. L., Santos‐Leite, M., Girós, M., Briones, P.
Published in Journal of inherited metabolic disease (01.12.2006)
Published in Journal of inherited metabolic disease (01.12.2006)
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Journal Article
Treatment with alirocumab in one patient with sitosterolemia
Lafuente González, H., Liceran Sanandres, M., Corbella ingles, E., Girós, M., Fanlo-maresma, M., Sarasa Corral, I., Trías Vilagut, F., Candás Estébanez, B., Puertas González, J.A., Corbella Virós, X., Pintó Sala, X.
Published in Atherosclerosis (01.08.2018)
Published in Atherosclerosis (01.08.2018)
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Journal Article
Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism
Pineda, Mercedes, Girós, Marisa, Roels, Frank, Espeel, Marc, Ruiz, Montserrat, Moser, Ann, Moser, Hugo W., Wanders, Ronald J. A., Pavia, Carlos, Conill, Juan, Aracil, Asunción, Amat, Luis, Pampols, Teresa
Published in Journal of child neurology (01.07.1999)
Published in Journal of child neurology (01.07.1999)
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Journal Article
PO-0827 Conotruncal Heart Defect In A Patient With Congenital Disorder Of Glycosylation Type I
Felipe, A, Albert, DC, Girós, M, Macaya, A
Published in Archives of disease in childhood (01.10.2014)
Published in Archives of disease in childhood (01.10.2014)
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