Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation

1991/05/01 by Andrea Superti‐Furga, A. Superti-Furga, B. Steinmann +5 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Amino Acid Enzymes and Metabolism #Folate and B Vitamins Research #Metabolism and Genetic Disorders

paper · doi:10.1007/bf01958431

crossref issued 1991/05/01 · crossref published 1991/05/01 · crossref published-print 1991/05/01 · openalex publication_date 1991/05/01 · crossref created 2005/07/29 · crossref deposited 2020/04/08 · crossref indexed 2023/10/25 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/23

Citations

• Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

Cited by

• Andrea Superti-Furga [wikipedia]