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NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.

Caroline R StancliftSelina S DwightKevin LeeQuirine L EijkenboomMatt WilseyKristen WilseyErica Sanford KobayashiSandra TongMatthew N Bainbridge
Published in: Orphanet journal of rare diseases (2022)
The estimated U.S. incidence of NGLY1 indicates the disease may be more common than the number of patients reported in the literature suggests. Given the low frequency of most variants and proportion of compound heterozygotes, genotype/phenotype correlations were not distinguishable.
Keyphrases
  • end stage renal disease
  • risk factors
  • ejection fraction
  • newly diagnosed
  • systematic review
  • chronic kidney disease
  • prognostic factors
  • copy number
  • patient reported outcomes