Article
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Journal of medical genetics - 1 Apr 2022
Tebani Abdellah, Sudrié-Arnaud Bénédicte, Dabaj Ivana, Torre Stéphanie, Domitille Laur, Snanoudj Sarah, Heron Benedicte, Levade Thierry, Caillaud Catherine, Vergnaud Sabrina, Saugier-Veber Pascale, Coutant Sophie, Dranguet Hélène, Froissart Roseline, Al Khouri Majed, Alembik Yves, Baruteau Julien, Arnoux Jean-Baptiste, Brassier Anais, Brehin Anne-Claire, Busa Tiffany, Cano Aline, Chabrol Brigitte, Coubes Christine, Desguerre Isabelle, Doco-Fenzy Martine, Drenou Bernard, Elcioglu Nursel H, Elsayed Solaf, Fouilhoux Alain, Poirsier Céline, Goldenberg Alice, Jouvencel Philippe, Kuster Alice, Labarthe François, Lazaro Leila, Pichard Samia, Rivera Serge, Roche Sandrine, Roggerone Stéphanie, Roubertie Agathe, Sigaudy Sabine, Spodenkiewicz Marta, Tardieu Marine, Vanhulle Catherine, Marret Stéphane, Bekri Soumeya
Abstract excerpt
INTRODUCTION: This study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB). METHODS: Clinical and genetic data of 52 probands, 47 patients with GM1-gangliosidosis and 5 patients with MPSIVB were analysed. RESULTS: The clinical presentations in patients with...
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