X-linked Adrenoleukodystrophy in a 20-Year-Old Male With an ABCD1 Gene Mutation: First Case From Pakistan

X-linked adrenoleukodystrophy (X-ALD) is a rare neurodegenerative disease characterized by genetic mutation of the ABCD1 gene. This gene encodes for transmembrane adrenoleukodystrophy protein (ALDP). Defective ALDP protein results in the accumulation of a very long chain fatty acid (VLCFA) within ce...

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Detalles Bibliográficos
Autores principales: Ghori, Mariam, Molani, Rameen A, Ibrahim, Prof Mohsina N, Hanif, Misbah I, Jamal Raza, Jamal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896247/
https://www.ncbi.nlm.nih.gov/pubmed/35291541
http://dx.doi.org/10.7759/cureus.21837

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896247/
https://www.ncbi.nlm.nih.gov/pubmed/35291541
http://dx.doi.org/10.7759/cureus.21837

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