Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boy.

Autor: Mohideen SB; Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.; Department of Chemical Pathology, Medical Research Institute, Colombo, Sri Lanka., Fernando PMS; Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka., Beetz C; Centogene GmbH, Rostock, Germany., Schroder S; Centogene GmbH, Rostock, Germany., Pereira C; Centogene GmbH, Rostock, Germany., Gunatilleke S; Neonatology Unit, Provincial General Hospital, Badulla, Sri Lanka., Rathnayake P; Department of Pediatric Neurology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka., Jasinge E; Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.

Publikováno v: Laboratory medicine [Lab Med] 2024 Aug 10. Date of Electronic Publication: 2024 Aug 10.

Potential of muvalaplin as a lipoprotein(a) inhibitor.

Autor: Hooper AJ; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital & Fiona Stanley Hospital Network, Perth, Western Australia, Australia.; School of Medicine, University of Western Australia, Perth, Western Australia, Australia., Fernando PMS; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital & Fiona Stanley Hospital Network, Perth, Western Australia, Australia., Burnett JR; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital & Fiona Stanley Hospital Network, Perth, Western Australia, Australia.; School of Medicine, University of Western Australia, Perth, Western Australia, Australia.

Publikováno v: Expert opinion on investigational drugs [Expert Opin Investig Drugs] 2024 Jan; Vol. 33 (1), pp. 5-7. Date of Electronic Publication: 2024 Feb 12.