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9 in total

Review 1. The prenatal diagnosis of congenital disorders of glycosylation (CDG).

Authors: Gert Matthijs; Els Schollen; Emile Van Schaftingen
Journal: Prenat Diagn Date: 2004-02 Impact factor: 3.050

2. Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

Authors: L Pavone; A Fiumara; R Barone; R Rizzo; P Buttitta; W B Dobyns; J Jaeken
Journal: J Neurol Date: 1996-10 Impact factor: 4.849

3. Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I.

Authors: H Stibler; U Holzbach; B Kristiansson
Journal: Scand J Clin Lab Invest Date: 1998-02 Impact factor: 1.713

4. Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex.

Authors: C Garel; C Baumann; M Besnard; H Ogier; J Jaeken; M Hassan
Journal: Skeletal Radiol Date: 1998-01 Impact factor: 2.199

5. [CDG (congenital disorders of glycosylation). Differential hereditary ataxia in adulthood diagnosis].

Authors: S Bubel; V Peters; C Klein; R Hackler; J R Schaefer; J Hagenah; G F Hoffmann; P Vieregge
Journal: Nervenarzt Date: 2002-08 Impact factor: 1.214

6. Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic.

Authors: Gerard Damen; Hans de Klerk; Jan Huijmans; Jan den Hollander; Maarten Sinaasappel
Journal: J Pediatr Gastroenterol Nutr Date: 2004-03 Impact factor: 2.839

[Dysmorphia and psychomotor retardation].

Review 1. The prenatal diagnosis of congenital disorders of glycosylation (CDG).

2. Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

3. Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I.

4. Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex.

5. [CDG (congenital disorders of glycosylation). Differential hereditary ataxia in adulthood diagnosis].

6. Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic.

7. Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.

Review 8. Congenital disorders of glycosylation: a booming chapter of pediatrics.

9. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.