Notes in g. Biochemical Basis of Hereditary Disease

To Subscribe, use this Key

Status	Last Update	Fields
Published	07/28/2024	Inborn errors of metabolism cause errors in biochemical pathways that {{c1::increase level of substrate}} and {{c1::decrease level of products}} of th…
Published	07/28/2024	The treatment of Alkaptonuria (a disease caused by errors in the homogentisate 1,2-dioxygenase) with {{c1::NTBC}} which inhibits upstream enzyme preve…
Published	07/28/2024	Phenylketonuria is another classic inborn error of metabolism caused by error in {{c1::phenylalanine hydroxylase enzyme}} and is treated by {{c2::decr…
Published	07/28/2024	Maternal PKU is caused by high phenylalanine levels during pregnancy results in pattern of abnormalities, including {{c1::microcephaly}}, {{c1::congen…
Published	07/28/2024	genetically determined differences in drug responses lead to variation in {{c1::therapeutic}} efficacy, {{c2::toxicity}}, and {{c1::adverse}} reaction…
Published	07/28/2024	Warfarin is an anticoagulant therapy prescribed to over 30 million people annually associated with a narrow therapeutic dosage window between clotting…
Published	07/28/2024	Philadelphia chromosome is an abnormal chromosome 22 involved in cancer where the drug {{c1::imatinib (gleevac)}} leads to an increase in survival rat…
Status	Last Update	Fields