N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report.

Autor: Selvanathan, Arthavan, Demetriou, Kalliope, Lynch, Matthew, Lipke, Michelle, Bursle, Carolyn, Elliott, Aoife, Inwood, Anita, Foyn, Leanne, McWhinney, Brett, Coman, David, McGill, Jim

Publikováno v: Journal of Inherited Metabolic Disease Reports; Sep2022, Vol. 63 Issue 5, p420-424, 5p

Effects of commencing sapropterin therapy on quality of life for children with phenylketonuria and their families: A qualitative parent interview study.

Autor: MITCHELL, AMY E.^1,2,3 a.mitchell5@uq.edu.au, MORAWSKA, ALINA^2,4, ETEL, EVREN⁵, ADINA, JAPHETH², ATTHOW, CATHERINE⁶, SMITH, SALLY^1,6, SPICER, JANETTE⁶, BURSLE, CAROLYN⁶, ELLIOTT, AOIFE⁶, O'NEILL, SARA⁶, INWOOD, ANITA^1,6

Publikováno v: Australian Journal of Advanced Nursing. Sep-Nov2024, Vol. 41 Issue 4, p22-31. 10p.

N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.

Autor: Selvanathan A; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia., Demetriou K; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia., Lynch M; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia., Lipke M; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia., Bursle C; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia., Elliott A; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia., Inwood A; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia., Foyn L; Chemical Pathology, Central Laboratory Pathology Queensland Herston Australia., McWhinney B; Chemical Pathology, Central Laboratory Pathology Queensland Herston Australia., Coman D; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia.; School of Medicine University of Queensland Brisbane Australia., McGill J; Chemical Pathology, Central Laboratory Pathology Queensland Herston Australia.

Publikováno v: JIMD reports [JIMD Rep] 2022 Jul 22; Vol. 63 (5), pp. 420-424. Date of Electronic Publication: 2022 Jul 22 (Print Publication: 2022).