On the phenotypic spectrum of serine biosynthesis defects - El-Hattab, Ayman W.; Shaheen, Ranad; Hertecant, Jozef; Galadari, Hassan I.; Albaqawi, Badi S.; Nabil, Amira; Alkuraya, Fowzan S. (Journal of inherited metabolic disease, 2016)
Keywords: Abnormalities, Multiple - genetics; Biochemistry; Brain Diseases - genetics; Fetal Growth Retardation - genetics; Human Genetics; Humans; Ichthyosis - genetics; Infant; Infant, Newborn; Internal Medicine; Limb Deformities, Congenital - genetics; Male; Medicine; Medicine & Public Health; Metabolic Diseases; Microcephaly - genetics; Mutation - genetics; Original Article; Pediatrics; Phenotype; Phosphoglycerate Dehydrogenase - genetics; Phosphoric Monoester Hydrolases - genetics; Serine - biosynthesis; Serine - genetics; Transaminases - genetics