ArticleFrontiers in endocrinology2018
Central Precocious Puberty in a Child With Metachromatic Leukodystrophy.
Article in Frontiers in endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 9 citations in OpenAlex.
- Central precocious puberty - etiology with particular consideration of neurological causes.Archives of medical science : AMS · 2024Article
- Gut microbiome combined with metabolomics reveals biomarkers and pathways in central precocious puberty.Journal of translational medicine · 2023Article
- Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novelMolecular genetics and metabolism reports · 2020Article
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Authors and funding
5 authors at 2 institutions in 1 country.
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Abstract
Metachromatic leucodystrophy (MLD) is a rare inherited lysosomal disorder caused by reduced activity of the enzyme arylsulfatase A with accumulation of sulfatides in the nervous system. We report a female child affected by MLD who developed central precocious puberty (CPP). This association has not been described so far. The proposita, after normal growth and psychomotor development, at age of 30 months presented with a rapidly progressive gait disturbance with frequent falls and with loss of acquired language skills. Magnetic resonance imaging showed leukoencephalopathy. Biochemical blood essays showed a 91% reduction in the arylsulfatase A activity and genetic analysis revealed compound heterozygous mutations of the
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