Congenital nephrotic syndrome: A novel phenotype of type I carbohydrate-deficient glycoprotein syndrome

Journal of Inherited Metabolic Disease

Volumn 19, Issue 6, 1996, Pages 787-791

  Van Der Knaap, M S ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFERRIN;

ARTICLE; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL NEPHROTIC SYNDROME; HUMAN; ISOELECTRIC FOCUSING; MALE; NEPHROTIC SYNDROME; NEWBORN; TRANSFERRIN BLOOD LEVEL;

EID: 0029830491     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799174     Document Type: Article

References (14)

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2. Bawle EV, Kupsky WJ, D'Amato CJ, Becker CJ, Hicks S (1995) Familial infantile olivopontocerebellar atrophy. Pediatr Neural 13: 14-18.
3. Hagberg BA, Blennow G, Kristiansson B, Stibler H (1993) Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. Pediatr Neural 9: 255 -262.
4. Harding BN, Dunger DB, Grant DB, Erdohazi M (1988) Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities. J Neurol Neurosurg Psychiatry 5: 385-390.
5. Horslen SP, Clayton PT, Harding BN, Hall NA, Keir G, Winchester B (1991) Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. Arch Dis Child 66: 1027-1032.
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7. Jaeken J (1991) The carbohydrate deficient glycoproteins syndrome: a genetic multisystemic disease with major nervous system involvement. Int Pediatr 6: 56-58.
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9. Jensen PR, Hansen FJ, Skovby F (1995) Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome. Neuroradiology 37: 328-330.
10. Petersen MB, Brostrøm K, Stibler H, Skovby F (1993) Early manifestations of the carbohydrate-deficient glycoprotein syndrome. J Pediatr 122: 66-70.
11. Strøm EH, Strømme P, Westvik J, Pedersen SJ (1993) Renal cysts in the carbohydrate-deficient glycoprotein syndrome. Pediatr Nephrol 7: 253-255.
12. Strømme P, Machlen J, Strøm EH (1991) Postmortem findings in two patients with the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand 375(supplement): 55-62.
13. Van der Knaap MS, Wevers R A, van Wijk A, Jacobs C (1994) Finnish type nephrotic syndrome: an unknown phenotype of carbohydrate deficient glycoprotein syndrome. Abstracts, 32nd Annual Symposium, Society for the Study of Inborn Errors of Metabolism, P 141.
14. Van Schaftingen E, Jaeken J (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377: 318-320.