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The definitive diagnosis rests on the demonstration of the deficiency of branching enzyme activity in liver, muscle, cultured skin fibroblasts, or leukocytes.
For example, from the knowledge that an English patent (claims 4, 5 and 6) refers to Branching Enzyme, it should be possible to discover the previously unknown German synonym Verzweigungsenzym from claims 4, 5 and 6 of the German translation.
Novel missense mutations in the glycogen branching enzyme gene in adult polyglucosan body disease.
60/059,257, "Modification of Starch Branching Patterns and Chain Length Distribution Via Transformation with Starch Branching Enzymes," contact Olin D.
But it's possible to create new or enhanced functionalities for starch by enzymatically changing its structural properties using glucosyltransferases, such as phosphorylases and branching enzymes.