case_images: PMC11782824_01
case_images: Dysmorphic features in Patient 1.
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case_images: PMC11782824_01_gr2.jpg
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case_images: Around the age of 8 years, he developed some dysmorphic features, such as a broad nasal base, bulbous nose, long philtrum, prominent cheeks, and pointed chin, which had not been reported previously (Fig. 2).
case_images: Timeline of symptoms and key biochemical test parameter for Patient 2.. Figure 3 shows the key symptoms of CTX and biochemical parameters observed in the life of Patient 2, from the age of 4 months to 7 years.. AST: Aspartate aminotransferase; ALT: Alanine aminotransferase; GGT: Gamma-glutamyl transferase; IQ: Intelligence Quotient; CDCA: Chenodeoxycholic acid.
case_images: gr3.jpg
case_images: PMC11782824_01_gr3.jpg
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case_images: However, levels of total bilirubin (22 mumol/L; normal range: 5.1 - 17 mumol/L) and direct bilirubin (14 mumol/L; normal range: 1.7-5.1 mumol/L) were elevated. (Fig. 3).
case_images: PMC11782824_02
case_images: PMC11782824_03
case_images: PMC11782824_04