Associated Papers
Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant.
Eker HK et al.
Molecular Syndromology, 2024
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Spodenkiewicz M et al.
Biology, 2020
32455636 (PubMed )
Supplement: biology-09-00108-s001.zip › biology-798548-supplementary.xlsx › Supplementary_data_2
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.
Falik-Zaccai TC et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010
Expanding the clinical and immunological phenotype of prolidase deficiency: A case report.
Basu S et al.
Pediatric Dermatology, 0
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