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The Journal of Pediatrics
Volume 145, Issue 5
, Pages 705-709
, November 2004
Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1
References
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- . Type IV glycogen-storage disease: light-microscopic, electron-microscopic, and enzymatic study. Am J Clin Pathol. 1976;66:702–709
- . Type IV glycogenosis (amylopectinosis): light and electron microscopic observations. Arch Pathol. 1970;90:354–363
- . Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest. 1996;97:941–948
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- Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. Ann Neurol. 2000;47:536–540
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- . Molecular genetics of type 1 glycogen storage disease. Mol Genet Metab. 2001;73:117–125
- Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol (Berl). 1994;87:531–536
- . Glycogenosis, IV: a new cause of infantile hypotonia. J Pediatr. 1972;80:842–844
- . Congenital variant of type IV glycogenosis: anatomoclinical report of a case. Ann Pathol. 1996;16:449–452
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PII: S0022-3476(04)00664-X
doi: 10.1016/j.jpeds.2004.07.024
© 2004 Elsevier Inc. All rights reserved.
« Previous
Next »
The Journal of Pediatrics
Volume 145, Issue 5
, Pages 705-709
, November 2004
