A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

Autor: M. C. J. Dekker, A. M. Sadiq, R. Mc Larty, R. M. Mbwasi, M. A. A. P. Willemsen, H. R. Waterham, B. C. Hamel

Publikováno v: Case Reports in Genetics, Vol 2019 (2019)

Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been described in various populations across the globe, but very few cases have been reported from

Externí odkaz: https://doaj.org/article/10af2e8b1c1b4ed188eed8f1a5affa66

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.

Autor: Dekker MCJ; Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania., Sadiq AM; Department of Radiology, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania., Mc Larty R; Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania., Mbwasi RM; Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania., Willemsen MAAP; Department of Pediatrics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, Netherlands., Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam UMC-Location AMC, University of Amsterdam, Amsterdam, Netherlands., Hamel BC; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, Netherlands.

Publikováno v: Case reports in genetics [Case Rep Genet] 2019 Dec 31; Vol. 2019, pp. 6148425. Date of Electronic Publication: 2019 Dec 31 (Print Publication: 2019).