(Q48232076)
Statements
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Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation (English)
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Luitgard M Neumann
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Arpad von Moers
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Jürgen Kunze
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Oliver Blankenstein
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Thorsten Marquardt
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2 August 2003
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162
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10
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710-713
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Identifiers
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