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J., Garca-Romero, J

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Investigating how immune cells and their secreted factors influence the pathogenesis of osteoporosis through the regulation of bone metabolism and the inflammatory microenvironment is essential for understanding disease progression and developing novel therapeutic strategies

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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