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X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by variants in the ABCD1 gene, leading to impaired cellular trafficking of very-long-chain fatty acids (VLCFA) ( Most females with classic galactosemia, even with early diagnosis and good compliance to a lifelong galactose-restricted diet, develop premature ovarian insufficiency (POI), manifesting as delayed puberty, amenorrhea or oligomenorrhea, and infertility ( GALT mRNA expression in ovary and liver versus lower in testis, suggesting organ-specific vulnerability ( Phosphomannomutase 2 deficiency (PMM2-CDG) may also lead to hypogonadism, as glycosylation is crucial for both spermatogenesis and oogenesis ( Cystinosis can impair gonadal function as well
Following perfusion, the brain was fixed for 48 hours and embedded in paraffin
ElKafoury, B
The Rho family small GTPases are the central mediators of actin reorganization in many cell types, including neurons
