Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins

Objective: To increase awareness of congenital disorders of glycosylation (CDG), we report the features of patients with a variety of clinical presentations ranging from mild hypotonia and strabismus to severe neurologic impairment. Study design: Nine North American patients with CDG type I and diff...

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Veröffentlicht in:The Journal of pediatrics 2002-11, Vol.141 (5), p.695-700
Hauptverfasser: Enns, Gregory M., Steiner, Robert D., Buist, Neil, Cowan, Charles, Leppig, Kathleen A., McCracken, Marjorie F., Westphal, Vibeke, Freeze, Hudson H., O'Brien, John F., Jaeken, Jaak, Matthijs, Gert, Behera, Sarina, Hudgins, Louanne
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Sprache:eng
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