International practices in the dietary management of fructose 1-6 biphosphatase deficiency
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Published:2018-01-25
Issue:1
Volume:13
Page:
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ISSN:1750-1172
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Container-title:Orphanet Journal of Rare Diseases
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language:en
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Short-container-title:Orphanet J Rare Dis
Author:
Pinto A.ORCID, Alfadhel M., Akroyd R., Atik Altınok Y., Bernabei S. M., Bernstein L., Bruni G., Caine G., Cameron E., Carruthers R., Cochrane B., Daly A., de Boer F., Delaunay S., Dianin A., Dixon M., Drogari E., Dubois S., Evans S., Gribben J., Gugelmo G., Heidenborg C., Hunjan I., Kok I. L., Kumru B., Liguori A., Mayr D., Megdad E., Meyer U., Oliveira R. B., Pal A., Pozzoli A., Pretese R., Rocha J. C., Rosenbaum-Fabian S., Serrano-Nieto J., Sjoqvist E., Timmer C., White L., van den Hurk T., van Rijn M., Zweers H., Ziadlou M., MacDonald A.
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Reference27 articles.
1. Besley GTN, Walter JH, Lewis MA, Chard CR, Addison GM. Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity. J Inherit Metab Dis. 1994;17:333–5. 2. Baker L, Winegrad AI. Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet. 1970;2:13–6. 3. Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, et al. Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. Am J Hum Genet. 1997;61:852–61. 4. Steinmann B, Santer R, van den Berghe G. Disorders of Fructose Metabolism. In: Fernandes J, Saudubray J-M, van den Berghe G, Walter JH, editors. Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin, Heidelberg: Springer Berlin Heidelberg; 2006. p. 135–42. 5. Morris AA, Deshphande S, Ward-Platt MP, Whitfield AE, Aynsley-Green A, Leonard JV, Pourfarzam M, Bartlett K. Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia. J Inherit Metab Dis. 1995;18:28–32.
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