threonine and Familial Hypophosphatemic Rickets

threonine has been researched along with Familial Hypophosphatemic Rickets in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Becker-Rose, P; Clausmeyer, S; Clemens, PC; Engelbach, M; Hesse, V; Kreuzer, M; Raue, F; Schulze, E; Spital, H1
Bergwitz, C; Carpenter, TO; Forman, S; Jaureguiberry, G; Jüppner, H1

Other Studies

2 other study(ies) available for threonine and Familial Hypophosphatemic Rickets

ArticleYear
Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.
    Calcified tissue international, 2009, Volume: 85, Issue:3

    Topics: Amino Acid Sequence; Child, Preschool; DNA Mutational Analysis; Exons; Familial Hypophosphatemic Rickets; Female; Gene Deletion; Gene Frequency; Genetic Diseases, X-Linked; Genetic Markers; Genetic Predisposition to Disease; Genotype; Humans; Infant; Male; Molecular Biology; PHEX Phosphate Regulating Neutral Endopeptidase; Point Mutation; Polymorphism, Genetic; Threonine

2009
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc.
    American journal of physiology. Renal physiology, 2008, Volume: 295, Issue:2

    Topics: Adult; Alleles; Animals; Base Sequence; Exocytosis; Familial Hypophosphatemic Rickets; Female; Haplotypes; Humans; Hypercalciuria; Kidney; Male; Molecular Sequence Data; Mutation, Missense; Oocytes; Opossums; Phosphates; Polymorphism, Single Nucleotide; Sodium; Sodium-Phosphate Cotransporter Proteins; Sodium-Phosphate Cotransporter Proteins, Type IIc; Threonine; Xenopus laevis

2008