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
chronic kidney disease
systematic review
newly diagnosed
prognostic factors
copy number
gene expression
patient reported outcomes
replacement therapy