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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García-Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez MR, García-Silva MT, González-Gutiérrez-Solana L, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, Mártinez-Bugallo F, Martín-Viota L, Vitoria-Miñana I, Lefeber DJ, Girós ML, Serrano Gimare M, Ugarte M, Pérez B, Pérez-Cerdá C. Medrano C, et al. Among authors: giros ml. Clin Genet. 2019 May;95(5):615-626. doi: 10.1111/cge.13508. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30653653
Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials.
Moser HW, Raymond GV, Koehler W, Sokolowski P, Hanefeld F, Korenke GC, Green A, Loes DJ, Hunneman DH, Jones RO, Lu SE, Uziel G, Giros ML, Roels F. Moser HW, et al. Among authors: giros ml. Adv Exp Med Biol. 2003;544:369-87. doi: 10.1007/978-1-4419-9072-3_47. Adv Exp Med Biol. 2003. PMID: 14713253 Clinical Trial. No abstract available.
Galactosaemia presenting as congenital pseudoafibrinogenaemia.
Ruiz M, Jover S, Armas M, Duque MR, Santana C, Girós ML, Boleda MD. Ruiz M, et al. Among authors: giros ml. J Inherit Metab Dis. 1999 Dec;22(8):943-4. doi: 10.1023/a:1005660011709. J Inherit Metab Dis. 1999. PMID: 10604151 No abstract available.
[Smith-Lemli-Opitz syndrome: abnormal cholesterol biosynthesis].
de la Torre Verdú M, Vázquez López M, Carrasco Marina L, Girós ML, Quijano Roy S, Arregui Sierra A. de la Torre Verdú M, et al. Among authors: giros ml. An Esp Pediatr. 1997 Jun;46(6):617-20. An Esp Pediatr. 1997. PMID: 9297435 Spanish. No abstract available.
14 results