English Microcephaly Cited by user CopperKettle on 09 Aug 2023 Microcephaly is a medical condition involving a smaller-than-normal head.
English Mild non-BH4-deficient hyperphenylalaninemia Cited by user CopperKettle on 28 May 2023 Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is a rare metabolic disorder characterized by mild hyperphenylalaninemia (HPA) and a range of variable neurologic…
English Autosomal dominant GTP cyclohydrolase I deficiency Cited by user CopperKettle on 19 Jun 2022 Autosomal dominant GTP cyclohydrolase I deficiency is a disease caused by disrupted operation of GTP cyclohydrolase I, an enzyme that plays an important role in the…
English Autosomal recessive GTP cyclohydrolase I deficiency Cited by user CopperKettle on 18 Jun 2022 Autosomal recessive GTP cyclohydrolase I deficiency (AR-GTPCHD) is a disorder associated with deficient operation of the enzyme GTP cyclohydrolase I.