Investigation of metabolic encephalopathy

Autor: van der Watt, GF

Publikováno v: Continuing Medical Education; Vol 31, No 1 (2013)

Encephalopathy may be a presenting sign in a wide range of medical conditions. This review focuses only on the diagnosis and initial management of those inherited metabolic diseases (IMDs) prevalent in South Africa that may present with encephalopath

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::a50e2b9cf4bc6e8c8c87d87a886d3b93
https://www.ajol.info/index.php/cme/article/view/84987

A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency.

Autor: Meldau S; National Health Laboratory Service, Groote Schuur Hospital, Cape Town, South Africa.; Division of Chemical Pathology, University of Cape Town, Cape Town, South Africa., Ackermann S; Private Practice, Constantiaberg Mediclinic, Cape Town, South Africa., Riordan G; Division of Paediatric Neurology, Dept of Paediatrics and Child Health, University of Cape Town, Red Cross War Memorial Children's Hospital, Cape Town, South Africa., van der Watt GF; National Health Laboratory Service, Groote Schuur Hospital, Cape Town, South Africa.; Division of Chemical Pathology, University of Cape Town, Cape Town, South Africa., Spencer C; Department of Medicine, Groote Schuur Hospital and Division of Human Genetics, University of Cape Town, Cape Town, South Africa., Raga S; Division of Paediatric Neurology, Dept of Paediatrics and Child Health, University of Cape Town, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; Neuroscience Institute, University of Cape Town, South Africa.; International Centre for Genomic Medicine in Neuromuscular Diseases Study, University College London, London, United Kingdom., Khan K; National Health Laboratory Service, Groote Schuur Hospital, Cape Town, South Africa.; Division of Chemical Pathology, University of Cape Town, Cape Town, South Africa., Blackhurst DM; Division of Chemical Pathology, University of Cape Town, Cape Town, South Africa., van der Westhuizen FH; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2024 Mar 29; Vol. 39, pp. 101078. Date of Electronic Publication: 2024 Mar 29 (Print Publication: 2024).

Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.

Autor: Meldau S; Division of Chemical Pathology, Department of Pathology, Groote Schuur and Red Cross War Memorial Children's Hospital, University of Cape Town and National Health Laboratory Service, Cape Town, South Africa., De Lacy RJ; Division of Paediatric Gastroenterology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa., Riordan GTM; Division of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa., Goddard EA; Division of Paediatric Gastroenterology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa., Pillay K; Division of Anatomical Pathology, Department of Pathology, Red Cross War Memorial Children's Hospital, University of Cape Town and National Health Laboratory Service, Cape Town, South Africa., Fieggen KJ; Division of Human Genetics, Department of Medicine, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa., Marais AD; Division of Chemical Pathology, Department of Pathology, Groote Schuur and Red Cross War Memorial Children's Hospital, University of Cape Town and National Health Laboratory Service, Cape Town, South Africa., Van der Watt GF; Division of Chemical Pathology, Department of Pathology, Groote Schuur and Red Cross War Memorial Children's Hospital, University of Cape Town and National Health Laboratory Service, Cape Town, South Africa.

Publikováno v: Clinical genetics [Clin Genet] 2018 May; Vol. 93 (5), pp. 1093-1096. Date of Electronic Publication: 2018 Mar 25.

Cystine urolithiasis in a caracal (Caracal caracal).

Autor: Tordiffe AS; National Zoological Gardens of South Africa, P.O. Box 754, Pretoria, Gauteng 0001, South Africa. adrian@nzg.ac.za, van der Watt GF, Reyers F

Publikováno v: Journal of zoo and wildlife medicine : official publication of the American Association of Zoo Veterinarians [J Zoo Wildl Med] 2012 Sep; Vol. 43 (3), pp. 649-51.

Reference change values: how useful are they?

Autor: Omar F; Division of Chemical Pathology, University of Cape Town, and National Health Laboratory Service, Chemical Pathology, C17, New Building, Groote Schuur Hospital, Anzio Road, Observatory, 7925, Cape Town, South Africa. fierdoz.omar@uct.ac.za, van der Watt GF, Pillay TS

Publikováno v: Journal of clinical pathology [J Clin Pathol] 2008 Apr; Vol. 61 (4), pp. 426-7. Date of Electronic Publication: 2008 Mar 06.