FOLLING DISEASES
\fˈɒlɪŋ dɪzˈiːzɪz], \fˈɒlɪŋ dɪzˈiːzɪz], \f_ˈɒ_l_ɪ_ŋ d_ɪ_z_ˈiː_z_ɪ_z]\
Sort: Oldest first
-
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
By DataStellar Co., Ltd
Word of the day
Platidiam
- An inorganic water-soluble platinum complex. After undergoing hydrolysis, it reacts DNA produce both intra interstrand crosslinks. These crosslinks appear to impair replication and transcription of DNA. The cytotoxicity cisplatin correlates with cellular arrest in G2 phase cell cycle.