Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1

Hanane Antoun; Nathalie Villeneuve; Antoinette Gelot; Sophie Panisset; Catherine Adamsbaum

doi:10.1007/s002470050571

Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1

Pediatric Radiology ◽

10.1007/s002470050571 ◽

1999 ◽

Vol 29 (3) ◽

pp. 194-198 ◽

Cited By ~ 23

Author(s):

Hanane Antoun ◽

Nathalie Villeneuve ◽

Antoinette Gelot ◽

Sophie Panisset ◽

Catherine Adamsbaum

Keyword(s):

Cerebellar Atrophy ◽

Syndrome Type ◽

Glycoprotein Syndrome Type ◽

Carbohydrate Deficient Glycoprotein Syndrome

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Abnormal Metabolism of Mannose in Families with Carbohydrate-Deficient Glycoprotein Syndrome Type 1

Biochemical and Molecular Medicine ◽

10.1006/bmme.1997.2599 ◽

1997 ◽

Vol 61 (2) ◽

pp. 161-167 ◽

Cited By ~ 25

Author(s):

K. Panneerselvam ◽

James R. Etchison ◽

Flemming Skovby ◽

Hudson H. Freeze

Keyword(s):

Syndrome Type ◽

Glycoprotein Syndrome Type ◽

Carbohydrate Deficient Glycoprotein Syndrome ◽

Abnormal Metabolism

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Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years.

British Journal of Ophthalmology ◽

10.1136/bjo.80.10.900 ◽

1996 ◽

Vol 80 (10) ◽

pp. 900-902 ◽

Cited By ~ 8

Author(s):

I Casteels ◽

W Spileers ◽

A Leys ◽

L Lagae ◽

J Jaeken

Keyword(s):

Identical Twin ◽

Syndrome Type ◽

Glycoprotein Syndrome Type ◽

Carbohydrate Deficient Glycoprotein Syndrome ◽

Electrophysiological Findings

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Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1

Clinical Genetics ◽

10.1034/j.1399-0004.1999.550109.x ◽

1999 ◽

Vol 55 (1) ◽

pp. 50-54 ◽

Cited By ~ 13

Author(s):

I Kondo ◽

K Mizugishi ◽

Y Yoneda ◽

T Hashimoto ◽

K Kuwajima ◽

...

Keyword(s):

Syndrome Type ◽

Missense Mutations ◽

Glycoprotein Syndrome Type ◽

Carbohydrate Deficient Glycoprotein Syndrome ◽

Phosphomannomutase 2

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Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1

Journal of Inherited Metabolic Disease ◽

10.1023/a:1005669900330 ◽

2000 ◽

Vol 23 (2) ◽

pp. 162-174 ◽

Cited By ~ 43

Author(s):

F. Imtiaz ◽

V. Worthington ◽

M. Champion ◽

C. Beesley ◽

J. Charlwood ◽

...

Keyword(s):

Syndrome Type ◽

Glycoprotein Syndrome Type ◽

Carbohydrate Deficient Glycoprotein Syndrome ◽

The Uk

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Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities

The Journal of Pediatrics ◽

10.1016/s0022-3476(98)70115-5 ◽

1998 ◽

Vol 133 (5) ◽

pp. 697-700 ◽

Cited By ~ 14

Author(s):

Michael J. Acarregui ◽

Thomas N. George ◽

William J. Rhead

Keyword(s):

Syndrome Type ◽

Phosphomannose Isomerase ◽

Glycoprotein Syndrome Type ◽

Carbohydrate Deficient Glycoprotein Syndrome

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A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity

Journal of Inherited Metabolic Disease ◽

10.1023/a:1005380003902 ◽

1997 ◽

Vol 20 (6) ◽

pp. 817-827 ◽

Cited By ~ 16

Author(s):

J. Charlwood ◽

P. Clayton ◽

A. Johnson ◽

G. Keir ◽

N. Mian ◽

...

Keyword(s):

Syndrome Type ◽

Glycoprotein Syndrome Type ◽

Carbohydrate Deficient Glycoprotein Syndrome

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Characterization of Carbohydrate Structure of Thyroid-Related Glycoproteins in Two Patients with Carbohydrate-Deficient Glycoprotein Syndrome Type 1

Pediatric Research ◽

10.1203/00006450-199904020-00819 ◽

1999 ◽

Vol 45 (4, Part 2 of 2) ◽

pp. 138A-138A

Author(s):

M C Ferrari ◽

R Parini ◽

L Persani ◽

P Beck-Peccoz

Keyword(s):

Syndrome Type ◽

Carbohydrate Structure ◽

Glycoprotein Syndrome Type ◽

Carbohydrate Deficient Glycoprotein Syndrome

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Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1

European Journal of Human Genetics ◽

10.1038/sj.ejhg.5200194 ◽

1998 ◽

Vol 6 (4) ◽

pp. 331-336 ◽

Cited By ~ 35

Author(s):

Susanne Kjaergaard ◽

Flemming Skovby ◽

Marianne Schwartz

Keyword(s):

Syndrome Type ◽

Glycoprotein Syndrome Type ◽

Carbohydrate Deficient Glycoprotein Syndrome

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401 Norman ataxia and carbohydrate-deficient glycoprotein syndrome type 1 (CDGS1): Are they the same disease?

European Journal of Paediatric Neurology ◽

10.1016/s1090-3798(99)91256-4 ◽

1999 ◽

Vol 3 (6) ◽

pp. A102

Author(s):

I. Pascual-Castroviejo ◽

S.I. Pascual-Pascual ◽

S. Quijano ◽

M. Matel

Keyword(s):

Syndrome Type ◽

Glycoprotein Syndrome Type ◽

Carbohydrate Deficient Glycoprotein Syndrome

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Endocrinology of the Carbohydrate-Deficient Glycoprotein Syndrome Type 1 from Birth through Adolescence

Pediatric Research ◽

10.1203/00006450-199504000-00003 ◽

1995 ◽

Vol 37 (4) ◽

pp. 395-401 ◽

Cited By ~ 62

Author(s):

Francis De Zegher ◽

Jaak Jaeken

Keyword(s):

Syndrome Type ◽

Glycoprotein Syndrome Type ◽

Carbohydrate Deficient Glycoprotein Syndrome

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