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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.

Beta-mannosidosis is a lysosomal storage disorder caused by pathogenic variants in the MANBA gene, resulting in deficiency of beta-mannosidase. This enzyme is essential for terminal glycoprotein degradation within lysosomes, and its deficiency leads to glycoprotein accumulation in the brain and other organs. Clinical m...

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

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