Anthropometric Phenotype of Patients with PMM2-CDG

Lignende værker

• The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant
  af: Justyna Paprocka, et al.
  Udgivet: (2021-03-01)
• Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype–Phenotype Correlation
  af: Rebecca Finnegan, et al.
  Udgivet: (2024-09-01)
• Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG
  af: Rameen Shah, et al.
  Udgivet: (2026-01-01)
• Deletion of Alg13 disrupts postnatal development and migration of GABAergic cortical interneurons
  af: Haibo Liu, et al.
  Udgivet: (2026-03-01)
• Normal transferrin glycosylation does not rule out severe ALG1 deficiency
  af: Inez Bosnyak, et al.
  Udgivet: (2024-05-01)