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Table 1 Clinical baseline data and genetic features of the 3 patients with GSD type Ib

From: Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib

  Patient 1 Patient 2 Patient 3
Clinical baseline data    
 Gender Female Male Female
 Age of onset (months) 1 8 30
 Age at clinical diagnosis (months) 15 42 36
 Course (months) 14 34 6
 Age at genetic diagnosis (years) 12 13 11
 Chief complaint Abdominal distension Upper respiratory tract infection, hepatomegaly Short stature, hepatomegaly
 Liver biopsy PAS ( +) PAS ( +) PAS ( +)
 Epinephrine tolerance test Positive Positive Positive
Genotypes    
 Base change c.[1016G > A];[572C > T] c.[572C > T]; [343G > A] c.[870 + 5G > A];[680G > A]
 Amino change p.[G339D];[P191L] p.[P191L];[G115R] splicing; W227*
 Exon 10;6 6;10 7;7
 Novel  − / −   − / −   − /Our first report