Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia von 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.

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Severe infantile acute encephalopathy and COG4 mutation: CDG IIJ von Felipe Rucián, Ana, Macaya Ruiz, Alfons, del Toro Riera, Mireia, Girós, M

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

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OP9 – 2583: Phosphomanomutase deficiency (PMM2-CDG): Assessment of cerebellar dysfunction through ICARS von De Diego, V, Serrano, M, Muchart, J, Felipe, A, Macaya, A, Velázquez, R, Póo, P, Fons, C, O'Callaghan, M, García-Cazorla, A, Boix, C, Robles, B, Carratalá, F, Girós, M, Artuch, R, Pérez-Cerdá, C, Pérez, B, Pérez-Dueñas, B

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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 von Coll, MJ, Palau, N, Camps, C, Ruiz, M, Pàmpols, T, Girós, M

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Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata... von 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.

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Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism von Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith

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Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation von Briones, P., Girós, M., Martinez, V.

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Treatment with alirocumab in one patient with sitosterolemia von 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.

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Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis von Pilo de la Fuente, B., Sobrido, M.J., Girós, M., Pozo, L., Lustres, M., Barrero, F., Macarrón, J., Díaz, M., Jiménez-Escrig, A.

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PO-0827 Conotruncal Heart Defect In A Patient With Congenital Disorder Of Glycosylation Type I von Felipe, A, Albert, DC, Girós, M, Macaya, A

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PO-0826 Conotruncal Heart Defect In A Patient With Congenital Disorder Of Glycosylation Type Ia von Felipe, A, Albert, DC, Girós, M, Macaya, A

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Utilidad de los niveles de colestanol en el diagnóstico y seguimiento de los pacientes con xantomatosis cerebrotendinosa von Pilo de la Fuente, B, Sobrido, M.J, Girós, M, Pozo, L, Lustres, M, Barrero, F, Macarrón, J, Díaz, M, Jiménez-Escrig, A

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Mutational spectrum of classical galactosaemia in Spain and Portugal von Gort, L., Boleda, M. D., Tyfield, L., Vilarinho, L., Rivera, I., Cardoso, M. L., Santos‐Leite, M., Girós, M., Briones, P.

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Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations von 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

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Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient von Tort, Frederic, Ugarteburu, Olatz, Torres, Maria Angeles, García-Villoria, Judit, Girós, Marisa, Ruiz, Angeles, Ribes, Antonia

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Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome von Witsch-Baumgartner, M, Gruber, M, Kraft, H G, Rossi, M, Clayton, P, Giros, M, Haas, D, Kelley, R I, Krajewska-Walasek, M, Utermann, G

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Long Survival in a Case of Peroxisomal Biogenesis Disorder with Peroxisome Mosaicism in the Liver von GIRÓS, M., ROELS, F., PRATS, J., RUIZ, M., RIBES, A., ESPEEL, M., WANDERS, R. J. A., SCHUTGENS, R. B. H., PÁMPOLS, T.

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Glycerol trioleate/glycerol trierucate therapy in X‐linked adrenoleukodystrophy: Saturated and unsaturated fatty acids in blood cells. Implications for the follow‐up von Ruiz, M., Pampols, T., Girós, M.

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Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency : clinical course, neuropathology and brain lipid composition in this Gaucher disease variant von PAMPOLS, T, PINEDA, M, GIROS, M. L, FERRER, I, CUSI, V, CHABAS, A, SANMARTI, F. X, VANIER, M. T, CHRISTOMANOU, H

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