-
1
-
-
8544228332
-
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins
-
DOI 10.1023/A:1005331523477
-
Jaeken J, Artigas J, Barone R, et al. 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 (Pubitemid 27354638)
-
(1997)
Journal of Inherited Metabolic Disease
, vol.20
, Issue.3
, pp. 447-449
-
-
Jaeken, J.1
Artigas, J.2
Barone, R.3
Fiumara, A.4
De Koning, T.J.5
Poll-The, B.T.6
De Rijk-Van, A.J.F.7
Hoffmann, G.F.8
Assmann, B.9
Mayatepek, E.10
Pineda, M.11
Vilaseca, M.A.12
Saudubray, J.M.13
Schluter, B.14
Wevers, R.15
Van Schaftingen, E.16
-
2
-
-
84871727313
-
PMM2-CDG (CDG-Ia)
-
Pagon RA, Bird TD, Dolan CR, et al, eds. [Internet]. Seattle: University of Washington; Aug 15 [updated 2011 Apr 21]
-
Sparks SE, Krasnewich DM. PMM2-CDG (CDG-Ia). In: Pagon RA, Bird TD, Dolan CR, et al, eds. GeneReviews [Internet]. Seattle: University of Washington; 1993-2005 Aug 15 [updated 2011 Apr 21].
-
(1993)
GeneReviews
-
-
Sparks, S.E.1
Krasnewich, D.M.2
-
3
-
-
0034935877
-
Neurologic course of congenital disorders of glycosylation
-
Pearl PL, Krasnewich D. Neurologic course of congenital disorders of glycosylation. J Child Neurol 2001;16:409-13 (Pubitemid 32631735)
-
(2001)
Journal of Child Neurology
, vol.16
, Issue.6
, pp. 409-413
-
-
Pearl, P.L.1
Krasnewich, D.2
-
4
-
-
0032972912
-
Cerebellar atrophy: An important feature of carbohydrate deficient glycoprotein syndrome type 1
-
DOI 10.1007/s002470050571
-
Antoun H, Villeneuve N, Gelot A, et al. Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1. Pediatr Radiol 1999;29:194-98 (Pubitemid 29134438)
-
(1999)
Pediatric Radiology
, vol.29
, Issue.3
, pp. 194-198
-
-
Antoun, H.1
Villeneuve, N.2
Gelot, A.3
Panisset, S.4
Adamsbaum, C.5
-
5
-
-
0029068298
-
Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome
-
Jensen PR, Hansen FJ, Skovby F. Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome. Neuroradiology 1995;37:328-30
-
(1995)
Neuroradiology
, vol.37
, pp. 328-330
-
-
Jensen, P.R.1
Hansen, F.J.2
Skovby, F.3
-
6
-
-
0031775984
-
Cerebellar involvement in metabolic disorders: A pattern-recognition approach
-
DOI 10.1007/s002340050597
-
Steinlin M, Blaser S, Boltshauser E. Cerebellar involvement in metabolic disorders: a pattern-recognition approach. Neuroradiology 1998;40:347-54 (Pubitemid 28282520)
-
(1998)
Neuroradiology
, vol.40
, Issue.6
, pp. 347-354
-
-
Steinlin, M.1
Blaser, S.2
Boltshauser, E.3
-
7
-
-
18344392101
-
Congenital disorder of glycosylation type Ia: A clinicopathological report of a newborn infant with cerebellar pathology
-
DOI 10.1007/s00401-004-0975-3
-
Aronica E, van Kempen AA, van der Heide M, et al. Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Acta Neuropathol 2005;109:433-42 (Pubitemid 40637318)
-
(2005)
Acta Neuropathologica
, vol.109
, Issue.4
, pp. 433-442
-
-
Aronica, E.1
Van Kempen, A.A.M.W.2
Van Der Heide, M.3
Poll-The, B.T.4
Van Slooten, H.J.5
Troost, D.6
Rozemuller-Kwakkel, J.M.7
-
8
-
-
0028338488
-
The normal brain stem from infancy to old age
-
Raininko R, Autti T, Vanhanen SL, et al. The normal brain stem from infancy to old age. Neuroradiology 1994;36:364-68
-
(1994)
Neuroradiology
, vol.36
, pp. 364-368
-
-
Raininko, R.1
Autti, T.2
Vanhanen, S.L.3
-
9
-
-
35348949007
-
The hot cross bun sign
-
DOI 10.1148/radiol.2452041856
-
Shrivastava A. The hot cross bun sign. Radiology 2007;245:606-07 (Pubitemid 47612547)
-
(2007)
Radiology
, vol.245
, Issue.2
, pp. 606-607
-
-
Shrivastava, A.1
-
10
-
-
2142825062
-
Cerebellum - Small Brain but Large Confusion: A Review of Selected Cerebellar Malformations and Disruptions
-
Boltshauser E. Cerebellum - small brain but large confusion: a review of selected cerebellar malformations and disruptions. Am J Med Genet A 2004;126A:376-85 (Pubitemid 38541805)
-
(2004)
American Journal of Medical Genetics
, vol.126 A
, Issue.4
, pp. 376-385
-
-
Boltshauser, E.1
-
12
-
-
42149107052
-
Differential diagnosis of cerebellar atrophy in childhood
-
DOI 10.1016/j.ejpn.2007.07.010, PII S1090379807001377
-
Poretti A, Wolf NI, Boltshauser E. Differential diagnosis of cerebellar atrophy in childhood. Eur J Paediatr Neurol 2008;12:155-67 (Pubitemid 351539064)
-
(2008)
European Journal of Paediatric Neurology
, vol.12
, Issue.3
, pp. 155-167
-
-
Poretti, A.1
Wolf, N.I.2
Boltshauser, E.3
-
13
-
-
72649095193
-
A developmental and genetic classification for midbrain-hindbrain malformations
-
Barkovich AJ, Millen KJ, Dobyns WB. A developmental and genetic classification for midbrain-hindbrain malformations. Brain 2009;132:3199-230
-
(2009)
Brain
, vol.132
, pp. 3199-3230
-
-
Barkovich, A.J.1
Millen, K.J.2
Dobyns, W.B.3
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