Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)-Reference-Cited by-同舟云学术

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Published:2017-03-24 Issue:5 Volume:40 Page:709-713
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

de Diego Víctor, ,Martínez-Monseny Antonio F.,Muchart Jordi,Cuadras Daniel,Montero Raquel,Artuch Rafael,Pérez-Cerdá Celia,Pérez Belén,Pérez-Dueñas Belén,Poretti Andrea,Serrano Mercedes

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-017-0028-4/fulltext.html

Reference11 articles.

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2. Aronica E, van Kempen AA, van der Heide M et al (2005) Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Acta Neuropathol 109:433–442

3. Barone R, Carrozzi M, Parini R et al (2015) A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. J Neurol 262:154–164

4. Eichler L, Bellenberg B, Hahn HK, Köster O, Schöls L, Lukas C (2011) Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status. AJNR Am J Neuroradiol 32:890–897

5. Feraco P, Mirabelli-Badenier M, Severino M et al (2012) The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a. AJNR Am J Neuroradiol 33:2062–2067

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