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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
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.
[Follow-up programme dropouts in very low weight newborns before two years of age].
Vázquez M, Iriondo M, Agut T, Poó MP, Ibáñez M, Krauel X.
Vázquez M, et al. Among authors: poo mp.
An Pediatr (Barc). 2011 May;74(5):309-16. doi: 10.1016/j.anpedi.2010.11.020. Epub 2011 Feb 23.
An Pediatr (Barc). 2011.
PMID: 21345756
Free article.
Spanish.
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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).
Serrano NL, De Diego V, Cuadras D, Martinez Monseny AF, Velázquez-Fragua R, López L, Felipe A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M; CDG Spanish-Consortium.
Serrano NL, et al.
Orphanet J Rare Dis. 2017 Sep 15;12(1):155. doi: 10.1186/s13023-017-0707-0.
Orphanet J Rare Dis. 2017.
PMID: 28915903
Free PMC article.
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Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium.
de Diego V, et al.
J Inherit Metab Dis. 2017 Sep;40(5):753-754. doi: 10.1007/s10545-017-0056-0.
J Inherit Metab Dis. 2017.
PMID: 28600669
No abstract available.
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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium.
de Diego V, et al.
J Inherit Metab Dis. 2017 Sep;40(5):709-713. doi: 10.1007/s10545-017-0028-4. Epub 2017 Mar 24.
J Inherit Metab Dis. 2017.
PMID: 28341975
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