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Table 1 Summary of analysis at initial and last evaluation

From: Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome

Laboratory

Before UCSa

After UCSb

NV

Gamma-glutamil transpetidase

140

322

3–22 U/l

Aspartate transaminase

1454

136

0–47 mg/dl

Alanine transaminase

288

164

0–49 U/l

Triglicerides

592

843

< 150 mg/dl

Cholesterol

166

268

< 200 mg/dl

Phosphorus

1,7

3,9

4–7 mg/dl

Alkaline phosphatase

1054

1584

0-645 U/l

Lactic deshydrogenase

632

407

230–460 U/l

pH

7,261

7,305

7,38 − 7,46

PCO2

35,1

24,1

32–46 mmHg

pO2

44,4

57,9

74–108 mmHg

HCO3

15,2

11,6

 

Base excess

-10,8

-13,3

 

Calcium

10

10,4

8,8–10,2 mg/dl

Creatinine

0,28

0,35

0,30 − 0,70 mg/dl

Uric acid

1,3

2,5

2,5–5,5 mg/dl

Glucose

29

64

70–99 mg/dl

Urine pH

7,4c

8c

 

Urine urea

182

--

 

Urine calcium

3

3

mg/dl

Urine uric acid

21

89

mg/dl

Urine phosphorus

6

26

mg/dl

Microalbuminuria

346

1830

< 30 mg/g

Proteinuria

95

315

< 25 mg/dl

Urine creatine

9

29

39–259 mg/dl

  1. Some laboratory data, particularly related to kidney function, did not show improvement (highlighted in bold fonts)
  2. UCS Uncooked cornstarch, NV Normal values
  3. aInitial evaluation
  4. bLast control
  5. cHCO3 plasma with normal values