Identification of Genetic Mutations in Japanese Patients with Fructose-1, 6-Bisphosphatase Deficiency
Authors:
- Yoshiharu KikawaYKYoshiharu Kikawa
- Manabu InuzukaMIManabu Inuzuka
- Byun Young JinBJByun Young Jin
- Satomi KajiSKSatomi Kaji
- Jun-Ichi KogaJKJun-Ichi Koga
- Yoshiki YamamotoYYYoshiki Yamamoto
- Kazuro FujisawaKFKazuro Fujisawa
- Ikue HataIHIkue Hata
- Akio NakaiANAkio Nakai
- Yosuke ShigematsuYSYosuke Shigematsu
- Hideo MizunumaHMHideo Mizunuma
- Akira TaketoATAkira Taketo
- 1 October 1997
- journal article
- Published by Elsevier in The American Journal of Human Genetics
- Vol. 61 (4) , 852-861
Abstract
No abstract availableKeywords
Funding Information
- Ministry of Education, Culture, Sports, Science and Technology
This publication has 26 references indexed in Scilit:
- Identification of a Genetic Mutation in a Family with Fructose-1,6-bisphosphatase DeficiencyBiochemical and Biophysical Research Communications, 1995
- cDNA Sequences Encoding Human Fructose 1,6-Bisphosphatase from Monocytes, Liver and Kidney: Application of Monocytes to Molecular Analysis of Human Fructose 1,6-Bisphosphatase DeficiencyBiochemical and Biophysical Research Communications, 1994
- Fructose and glucagon loading in siblings with fructose‐1,6‐diphosphatase deficiency in fed stateJournal of Inherited Metabolic Disease, 1991
- Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiencyEuropean Journal of Pediatrics, 1990
- Clinical and biochemical observations on three cases of fructose‐1,6‐diphosphatase deficiencyJournal of Inherited Metabolic Disease, 1990
- Structure refinement of fructose-1,6-bisphosphatase and its fructose 2,6-bisphosphate complex at 2.8 Å resolutionJournal of Molecular Biology, 1990
- INVESTIGATION OF INBORN ERRORS OF METABOLISM IN UNEXPECTED INFANT DEATHSThe Lancet, 1988
- Single-step purification of polypeptides expressed in Escherichia coli as fusions with glutathione S-transferaseGene, 1988
- Biochemical observations on a case of hepatic fructose‐1,6‐diphosphatase deficiencyJournal of Inherited Metabolic Disease, 1985
- FASTING HYPOGLYCÆMIA AND METABOLIC ACIDOSIS ASSOCIATED WITH DEFICIENCY OF HEPATIC FRUCTOSE-1,6-DIPHOSPHATASE ACTIVITYThe Lancet, 1970