Abstracts

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The following are abstracts of presentations to the NIH Consensus Development Conference on Phenylketonuria (PKU): Screening and Management. They were designed for the use of panelists and participants in the conference and as a reference document for anyone interested in the conference deliberations.

Phenylketonuria: Paradigm for a Treatable Genetic Disease…? (next)
By Charles R. Scriver, M.D

The Use of Mutation Analysis To Anticipate Dietary Requirements in PKU
By Flemming Güttler, M.D., Ph.D.

Human Pathophysiology
By Friedrich K. Trefz, M.D.

Screening Technologies: Types and Effectiveness
By Harvey L. Levy, M.D.

Screening Procedures: Variations in Diagnostic Criteria and Followup
By Michele A. Lloyd-Puryear, M.D., Ph.D.

Informed Consent for Newborn Screening and Future Uses of Tissue Samples
By Mary Kay Z. Pelias, Ph.D., J.D.

Variations Among Programs in Time of Initiation of Diet Treatment, Level of Control, and Diet Relaxation/Discontinuation
By Margretta R. Seashore, M.D., FAAP, FACMG

Effects of Dietary Treatment on Children With Classical Phenylketonuria (PKU): The United States PKU Collaborative Study, 1967–1984
By Eva Gross Friedman

Dietary Treatment of PKU With Behavior Disorders
By Alfred A. Baumeister, Ph.D.

A 15-Year Followup Report on Participants in the Collaborative Study of Children Treated for PKU (PKUCS 1967–1984)
By Richard Koch, M.D.

Commentary on Recommendations in the United Kingdom for the Management of PKU
By Forrester Cockburn, M.D.

Recommendations of the German Working Group for Metabolic Diseases for Control of Phenylalanine in Phenylketonuria
By Peter Burgard, Ph.D.