Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series
Silvia Radenkovic(Utrecht University), Éva Morava(Institut thématique Génétique, génomique et bioinformatique), Christin Johnsen(University of Göttingen), Kaitlin Schwartz(Mayo Clinic in Florida), Gurnoor Lail(University of Toronto), Laura Guilder(University of Toronto), Matthew Schultz(Mayo Clinic in Arizona), Andreas Schulze(University of Toronto), Saadet Mercimek‐Andrews(University of Alberta), Suzanne Boyer(Mayo Clinic in Florida)
Cited by 11
Related Papers
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
|Genetics in Medicine|2017|563
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
|npj Genomic Medicine|2016|377
Complicated diverticular disease of the sigmoid colon. An analysis of short and long term outcome in 392 patients.
|PubMed|1979|107
Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man
|Cell Metabolism|2011|100
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
|The American Journal of Human Genetics|2021|90