From Variant to Clinical Trajectory: Genotype-Phenotype Correlations in Pediatric Lysosomal Storage Disorders
DOI:
https://doi.org/10.48047/2ryrg142Keywords:
lysosomal storage disorders; genotype-phenotype correlation; pediatric genetics; newborn screening; precision medicineAbstract
Background: Lysosomal storage disorders are important causes of progressive multisystem disease in childhood. Molecular diagnosis may precede symptoms, yet the clinical meaning of a detected variant is often uncertain. To synthesize clinically useful genotype-phenotype relationships across major pediatric lysosomal storage disorders and clarify how molecular findings should influence diagnosis, prognosis, surveillance, counseling, and treatment timing. A focused narrative synthesis of peer-reviewed literature and authoritative laboratory standards
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References
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Lysosomal storage diseases. Nat Rev Dis Primers. 2018;4(1):27.
Ballabio A, Bonifacino JS. Lysosomes as dynamic regulators of cell and organismal homeostasis. Nat Rev Mol Cell Biol. 2020;21(2):101118.
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