Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia

Samankaltaisia teoksia

• Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease
  Tekijä: Cocanougher, Benjamin, et al.
  Julkaistu: (2015)
• Ovarian function in girls and women with GALT-deficiency galactosemia
  Tekijä: Fridovich-Keil, Judith L., et al.
  Julkaistu: (2010)
• A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia
  Tekijä: Tran, Thanh-Thanh (Claire) V., et al.
  Julkaistu: (2015)
• High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia
  Tekijä: Li, Lulu, et al.
  Julkaistu: (2020)
• Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure (†)
  Tekijä: Grama, Alina, et al.
  Julkaistu: (2019)