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Table 2 Table caption

From: Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)

Patient no.P1P2P3P4P5-1P5-2
Mutation
 cDNAc.1042_1043delCTc.1042_1043delCTc.1042_1043delCTc.365G>Ag.118895235_118901g.118895235_118901
 Proteinp.Leu348Valfs*53p.Leu348Valfs*53p.Leu348Valfs*53p.Gly122Glu946del946del
GenderFMFFFM
Age(yr)82.55.55199
Age at onset10 daysAt birth1 mon9 monsince birth4 mon
Age at diagnosis4 mon3 mon4 mon1 year3 mon5 mon
Initial presentations-Diarrhea
-Lethargy
-Hypoglycemia
-Hepatomegaly
-Failure to thrive
-Poor feeding
-Metabolic acidosis
-Respiratory distress
-Vomiting
-Hypoglycemia
-Metabolic acidosis
-Poor feeding
-Aphthous stomatitis
-Pneumonia
-Diarrhea
-Cellulite around the breast
-Hepatomegaly
-Hypoglycemia
-Hepatomegaly
-Hepatomegaly
-Nausea
-Acidosis
-Poor feeding
-Elevated triglyceride and cholesterol
-Metabolic acidosis
-Lethargy
-Tachypnea
-Vomiting
-Poor feeding
-Seizure at birth
-Hepatomegaly
Liver biopsy-Liver steatosis-Compatible with GSD-Liver steatosis-Liver steatosis-Liver steatosis-Liver steatosis
Infections-Otitis
-Respiratory tract infection
-Gastroenteritis
-Sever aphthous stomatitis
-Aphthous stomatitis
-Pneumonia
-Recurrent pneumonia
-Oral candidiasis
-Aphthous stomatitis
-Nipple abscess
-Otitis media
-Gingivitis
-Otitis
-Pharyngitis
-Periodic aphthous stomatitis
-Aphthous stomatitis
Neutropeniaa
 WBC (*103/μl)7.36.996.07.081.52.5
 ANC /μL400489300977267500
Hepatomegaly++++++
Hypoglycemia ( <60mg/dl)++++++
Chubby face++++--
Increased AST/ ALT (Up to 37 U/L)/ (Up to 41 U/L)++++--
Hyperlipidemia (>160 mg/dl)++++--
Hypercholesterolemia (>200 mg/dl)--+-+-
Hyperlactatemia (>2.5 mg/dl)++++NANA
Hyperuricemia (>5 mg/dl)++-+--
Other features-Nephromegaly
-IBD-Like disorder
- Anemia
-Hospitalization (12 times)
-Hospitalization (4 times)
-Increased ESR
-Anemia
-Seizure (one time)
-Presence atypical cells in peripheral blood smear (PBS)b
-Hepatosplenomegaly
-Increased ESR
-Epistaxis
-Seizure (4 times)
-Severe hearing loss
-Otitis
-Autism-like behaviors
- Vision weakness
- Strabismus
-Developmental delay
-Gingivitis
- Anemia
-Hypothyroidism-Nephromegaly
-Increased ESR
-Anemia
-Hepatosplenomegaly
-Increased ESR
-Anemia
-Severeosteopenia
Prescribed Drugs-Corn starch
-Allopurinol
-Bicarbonate
-G-CSF
-Intravenous injection of Mg, P and Na solutions
-Phenobarbital
-Mupirocin
-Fluconazol
-Corn starch
-Galactomin
-G-CSF
-Allopurinol
-Bicarbonate
-Corn starch
-G-CSF
-Anti-seizure drugs
-Corn starch
-Bicarbonate
-Corn starch
-G-CSF
-Corn starch
-G-CSF