Severe Infantile Transaldolase deficiency: A case report
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Heighten Science Publications Corporation
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https://www.pediatricshealthjournal.com/articles/japch-aid1003.pdf
Reference11 articles.
1. 1. Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, et al. Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet. 2001; 68: 1086-1092. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/11283793
2. 2. Perl A. The pathogenesis of transaldolase deficiency. IUBMB Life. 2007; 59: 365-373. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/17613166
3. 3. Wamelink MM, Smith DE, Jansen EE, Verhoeven NM, Struys EA, et al. Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine. J Inherit Metab Dis. 2007; 30: 735-742. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/17603756
4. 4. Eyaid W, Al Harbi T, Anazi S, Wamelink MM, Jakobs C, et al. Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis. 2013; 36: 997-1004. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/23315216
5. 5. Rodan LH, Berry GT. N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. JIMD Rep. 2017; 31: 73-77. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/27130472
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1. Chances of Liver Transplantation in a Patient With Transaldolase Deficiency Complicated by Hepatopulmonary Syndrome;Cureus;2023-02-18
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