Birth Defects & Child Health

Birth Defects & Child Health

Clinical utility gene card for: Prader-Willi Syndrome
Buiting K, et al. Eur J Hum Genet 2014 Apr

National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians International (GMDI).
Greene CL, et al. Mol Genet Metab. 2014 Mar 25. pii: S1096-7192(14)00093-6.

Phenylketonuria scientific review conference: State of the science and future research needs.
Camp KM, et al. Mol Genet Metab. 2014 Mar 6. pii: S1096-7192(14)00085-7.