Louisa Bhengu
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View article: Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients
Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients Open
View article: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients
STAC3 disorder: a common cause of congenital hypotonia in Southern African patients Open
STAC3 disorder, or Native American myopathy, is characterised by congenital myopathy, hypotonia, musculoskeletal and palatal anomalies, and susceptibility to malignant hyperthermia. A STAC3 c.851 G > C (p.Trp284Ser) pathogenic variant, com…
View article: Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa
Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa Open
View article: Krabbe disease: An unusual presentation of optic nerve enlargement
Krabbe disease: An unusual presentation of optic nerve enlargement Open
No abstract available.
View article: Krabbe disease – An unusual presentation of optic nerve enlargement
Krabbe disease – An unusual presentation of optic nerve enlargement Open
Krabbe disease is an autosomal recessive leukodystrophy that presents clinically with regression of milestones, excessive irritability and inconsolable crying. The pathologic basis of the disease is abnormal myelin metabolism resulting fro…
View article: Anderson-Fabry disease: recommendations for its diagnosis, management and treatment in South Africa, 2014
Anderson-Fabry disease: recommendations for its diagnosis, management and treatment in South Africa, 2014 Open
Background: Anderson-Fabry disease (AFD) is a rare, X-linked lysosomal storage disorder that leads to the accumulation of globotriasylceramide in the lysosomes in tissues throughout the body. The responsible gene is α-galactosidase A, foun…
View article: Article withdrawn: Anderson-Fabry disease: recommendations for its diagnosis, management and treatment in South Africa, 2014
Article withdrawn: Anderson-Fabry disease: recommendations for its diagnosis, management and treatment in South Africa, 2014 Open
"Article withdrawn: Anderson-Fabry disease: recommendations for its diagnosis, management and treatment in South Africa, 2014." Journal of Endocrinology, Metabolism and Diabetes of South Africa, 20(1), pp. 15–23