Page last updated: 2024-08-17

histidine and Deficiency, Glucosephosphatase

histidine has been researched along with Deficiency, Glucosephosphatase in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (25.00)18.2507
2000's2 (50.00)29.6817
2010's0 (0.00)24.3611
2020's1 (25.00)2.80

Authors

AuthorsStudies
Abuduxikuer, K; Fang, LJ; Huang, KY; Yan, XM; Zhu, H1
Annabi, B; Chou, JY; Hemrika, W; Lei, KJ; Pan, CJ1
Lee, CC; Tsai, CH; Tsai, FJ; Wu, JY; Wu, MC1
Chen, TJ; Dai, P; Hwu, WL; Wong, LJ1

Other Studies

4 other study(ies) available for histidine and Deficiency, Glucosephosphatase

ArticleYear
An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia.
    Journal of pediatric endocrinology & metabolism : JPEM, 2020, May-21, Volume: 33, Issue:6

    Topics: Amino Acid Substitution; Arginine; Diagnosis, Differential; Female; Genetic Testing; Glucose-6-Phosphatase; Glycogen Storage Disease Type I; Histidine; Homozygote; Humans; Hypertriglyceridemia; Infant; Mutation, Missense; Pedigree; Polymorphism, Single Nucleotide; Severity of Illness Index; Triglycerides

2020
Transmembrane topology of glucose-6-phosphatase.
    The Journal of biological chemistry, 1998, Mar-13, Volume: 273, Issue:11

    Topics: Amino Acid Sequence; Binding Sites; Endopeptidase K; Glucose-6-Phosphatase; Glycogen Storage Disease Type I; Histidine; Humans; Membrane Proteins; Microsomes; Molecular Sequence Data; Mutagenesis; Protein Conformation; Sequence Deletion; Trypsin

1998
A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).
    Human mutation, 2000, Volume: 16, Issue:5

    Topics: Alternative Splicing; China; Female; Glucose-6-Phosphatase; Glycogen Storage Disease Type I; Histidine; Humans; Leucine; Male; Mutation, Missense; Nuclear Family; Taiwan

2000
Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan.
    Molecular genetics and metabolism, 2001, Volume: 72, Issue:2

    Topics: Base Sequence; China; Codon, Nonsense; Electrophoresis, Polyacrylamide Gel; Frameshift Mutation; Glucose-6-Phosphatase; Glycogen Storage Disease Type I; Heterozygote; Histidine; Humans; Molecular Sequence Data; Mutation; Mutation, Missense; Phosphoric Monoester Hydrolases; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Protein Structure, Tertiary; RNA Splicing; Sequence Analysis, DNA; Taiwan

2001