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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: giros m. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B. Serrano M, et al. Among authors: giros m. Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y. Orphanet J Rare Dis. 2015. PMID: 26502900 Free PMC article.
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
Matalonga L, Bravo M, Serra-Peinado C, García-Pelegrí E, Ugarteburu O, Vidal S, Llambrich M, Quintana E, Fuster-Jorge P, Gonzalez-Bravo MN, Beltran S, Dopazo J, Garcia-Garcia F, Foulquier F, Matthijs G, Mills P, Ribes A, Egea G, Briones P, Tort F, Girós M. Matalonga L, et al. Among authors: giros m. Hum Mutat. 2017 Feb;38(2):148-151. doi: 10.1002/humu.23145. Epub 2016 Nov 26. Hum Mutat. 2017. PMID: 27862579
Mutational spectrum of classical galactosaemia in Spain and Portugal.
Gort L, Boleda MD, Tyfield L, Vilarinho L, Rivera I, Cardoso ML, Santos-Leite M, Girós M, Briones P. Gort L, et al. Among authors: giros m. J Inherit Metab Dis. 2006 Dec;29(6):739-42. doi: 10.1007/s10545-006-0356-2. Epub 2006 Oct 14. J Inherit Metab Dis. 2006. PMID: 17041746
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.
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