Congenital nephrotic syndrome: A novel phenotype of type I carbohydrate-deficient glycoprotein syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF01799174
Reference14 articles.
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2. Bawle EV, Kupsky WJ, D'Amato CJ, Becker CJ, Hicks S (1995) Familial infantile olivopontocerebellar atrophy.Pediatr Neurol 13: 14–18.
3. Hagberg BA, Blennow G, Kristiansson B, Stibler H (1993) Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.Pediatr Neurol 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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