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Author

Liliane H. Gibbs

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2 papers indexed here

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Case report Open access Sep 2026

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood.

Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness. The radiologic manif...

Narinder Singh, Arpita Neogi, Liliane H. Gibbs et al. · 0 citations
Review Open access Aug 2026

Phenotype variability in six new patients with beta-mannosidosis.

Analysis of six new cases of beta-mannosidosis highlights marked phenotypic variability with no clear genotype-phenotype correlation and early screening may enable prompt diagnosis, improve management, and support future therapeutic development.

Madelyn Olivas, C.N. Romano, Angela Martin et al. · 0 citations

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