Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Genetics (clinical),Drug Discovery,Molecular Medicine
Link
http://link.springer.com/content/pdf/10.1007/BF00179991.pdf
Cited by 12 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report;Molecular Genetics & Genomic Medicine;2023-12-19
2. Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP 1 gene mutation;PEDIATRIC INVESTIGATION;2019-06
3. International practices in the dietary management of fructose 1-6 biphosphatase deficiency;Orphanet Journal of Rare Diseases;2018-01-25
4. Urinary fructose-1,6-bisphosphatase activity as a marker of the damage to the renal proximal tubules in children with idiopathic nephrotic syndrome;Clinical Chemistry and Laboratory Medicine;2008-01-01
5. Diagnosis of Fructose-1,6-Bisphosphatase Deficiency Using Cultured Lymphocyte Fraction: A Secure and Noninvasive Alternative to Liver Biopsy;Journal of Inherited Metabolic Disease;2002-02
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