Visuttijai K

Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle.

Visuttijai K, Hedberg-Oldfors C, Costello DJ, Bermingham N, Oldfors A

Neuropathol Appl Neurobiol 50 (3) e12995 [2024-06-00; online 2024-06-26]

Clinical Genomics Gothenburg [Service] Integrated Microscopy Technologies Gothenburg [Service]

Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia.

Hedberg-Oldfors C, Mitra S, Molinaro A, ..., Sterky FH, Darin N

Eur. J. Hum. Genet. 31 (8) 887-894 [2023-08-00; online 2023-03-20]

Clinical Genomics Gothenburg [Service]

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.

Visuttijai K, Hedberg-Oldfors C, Thomsen C, ..., Roach P, Oldfors A

J. Clin. Endocrinol. Metab. 105 (2) 557-566 [2020-02-01; online 2019-10-20]

Glycoproteomics and MS Proteomics [Service]