GMPPB‐CDG results in lysosomal dysfunction and acid alpha‐glucosidase deficiency

Source
Journal of inherited metabolic disease - ISSN 0141-8955-49:1 (2026) p. 1-14
Author(s)
    Carla Damiano, Antonietta Tarallo, Vincenza Gragnaniello, Sandra Strollo, Simona Fecarotta, M. Rosaria Tuzzi, Elena Polishchuk, Sandro Montefusco, Anna Valanzano, Antonia Assunto, Nadia Minopoli, Roberto Della Casa, Roman Polishchuk, Stijn in 't Groen, Diego Luis Medina, Enrico Bertini, Rosalba Carrozzo, Julia Emmerich, Benedikt Schoser, W.W.M. Pim Pijnappel, Giancarlo Parenti

Lipid alterations in hereditary peripheral neuropathies : common mechanisms in disease heterogeneity?

Source
Molecular neurodegeneration - ISSN 1750-1326-21:1 (2026) p. 1-19
Author(s)
    Koen Kuipers, Sam Vanherle, Kirsten Poelmans, Esther Wolfs, Jeroen Bogie, Tim Vangansewinkel

Charcot-Marie-Tooth disease and related neuropathies

Source
Nature reviews disease primers - ISSN 2056-676X-12:1 (2026) p. 1-20
Author(s)