Figure 2. [Flow chart for diagnosis of citrin deficiency]. - GeneReviews® - NCBI Bookshelf

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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 2.

Figure 2.

Flow chart for diagnosis of citrin deficiency

Note that food preferences (e.g., aversion to sugars) are important in the diagnosis of citrin deficiency, not only in typical CTLN2 but also in cases of growth restriction, hypoglycemia, pancreatitis, and hypertriglyceridemia in both children and adults.

AFP = α-fetoprotein; ALP = alkaline phosphatase; DB = direct bilirubin; PSTI = pancreatic secretory trypsin inhibitor; TB = total bilirubin; TBA = total bile acids

From: Citrin Deficiency

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Saheki T, Song YZ. Citrin Deficiency. 2005 Sep 16 [Updated 2017 Aug 10]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Figure 2. [Flow chart for diagnosis of citrin deficiency].
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