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Research ArticlePediatrics

The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a

P. Feraco, M. Mirabelli-Badenier, M. Severino, M.G. Alpigiani, M. Di Rocco, R. Biancheri and A. Rossi
American Journal of Neuroradiology December 2012, 33 (11) 2062-2067; DOI: https://doi.org/10.3174/ajnr.A3151
P. Feraco
aDepartments of Pediatric Neuroradiology (P.F., M.S., A.R.)
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M. Mirabelli-Badenier
bInfantile Neuropsychiatry (M.M.-B., R.B.)
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M. Severino
aDepartments of Pediatric Neuroradiology (P.F., M.S., A.R.)
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M.G. Alpigiani
cPediatrics (M.G.A.)
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M. Di Rocco
dPediatrics II (M.D.R.), G. Gaslini Children's Hospital, Genova, Italy.
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R. Biancheri
bInfantile Neuropsychiatry (M.M.-B., R.B.)
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A. Rossi
aDepartments of Pediatric Neuroradiology (P.F., M.S., A.R.)
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References

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    . Phosphomannomutase deficiency is the main cause of carbohydrate deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. J Inherit Metab Dis 1997; 20: 447– 49
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    . Neurologic course of congenital disorders of glycosylation. J Child Neurol 2001; 16: 409– 13
    Abstract/FREE Full Text
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    . Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1. Pediatr Radiol 1999; 29: 194– 98
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    Abstract/FREE Full Text
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American Journal of Neuroradiology: 33 (11)
American Journal of Neuroradiology
Vol. 33, Issue 11
1 Dec 2012
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The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a
P. Feraco, M. Mirabelli-Badenier, M. Severino, M.G. Alpigiani, M. Di Rocco, R. Biancheri, A. Rossi
American Journal of Neuroradiology Dec 2012, 33 (11) 2062-2067; DOI: 10.3174/ajnr.A3151

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The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a
P. Feraco, M. Mirabelli-Badenier, M. Severino, M.G. Alpigiani, M. Di Rocco, R. Biancheri, A. Rossi
American Journal of Neuroradiology Dec 2012, 33 (11) 2062-2067; DOI: 10.3174/ajnr.A3151
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Cited By...

  • Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature
  • Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution
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