Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program-Reference-Cited by-同舟云学术

Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program

Published:1981-10 Issue:1 Volume:116 Page:101-105
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Hiromasa Misumi,Hiroshi Wada,Mikiko Kawakami,Hukue Ninomiya,Teruka Sueishi,Yozo Ichiba,Toshikiyo Shohmori

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference8 articles.

1. Newborn screening for galactosemia and other galactose metabolic defects;Levy;J. Pediatr.,1978

2. Früherfassung von Anomalien im Galaktosestoffwechsel. Methoden und Resultate;Gitzelman;Mschr. Kinderheilk.,1976

3. Galactose-1-phosphate in galactosemia;Donnell;Pediatrics,1963

4. Undine diphosphate galactose 4-epimerase deficiency II. Clinical follow-up, biochemical studies and family investigation;Gitzelmann;Helv. Paediatr. Acta,1973

5. Galactose and hepatic metabolism in malnutrition and sepsis in man;Royle;Clin. Sci. Mol. Med.,1978

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. Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III;Cell Biochemistry and Biophysics;2021-02-08

2. Optimization of a newly established gas-chromatographic method for determining lactose and galactose traces: Application to Pecorino Romano cheese;Journal of Food Composition and Analysis;2018-12

3. Hypoglycemia;Genetic Diagnosis of Endocrine Disorders;2016

4. Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells;FEBS Journal;2009-02-24

5. Molecular characterization of a unique patient with epimerase-deficiency galactosaemia;Journal of Inherited Metabolic Disease;1998-06