Compounds > 3,4-dihydroxyphenylglycol
Page last updated: 2024-08-26

3,4-dihydroxyphenylglycol and Congenital Hypocupremia

3,4-dihydroxyphenylglycol has been researched along with Congenital Hypocupremia 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's1 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Goldstein, DS; Holmes, CS; Kaler, SG1
Donsante, A; Jansen, LA; Johnson, P; Kaler, SG1
Donsante, A; Godwin, SC; Goldstein, DS; Holmes, CS; Kaler, SG; Liew, CJ; Patronas, N; Sato, S; Tang, J1
Gahl, WA; Gallo, LK; Goldstein, DS; Holmes, CS; Kaler, SG; Mark, Y; Percy, AK; Proud, VK; Segal, NA1

Other Studies

4 other study(ies) available for 3,4-dihydroxyphenylglycol and Congenital Hypocupremia

ArticleYear
Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease.
    Neurochemical research, 2009, Volume: 34, Issue:8

    Topics: 3,4-Dihydroxyphenylacetic Acid; Biomarkers; Catechols; Chromatography, High Pressure Liquid; Dopamine; Epinephrine; Humans; Infant, Newborn; Male; Menkes Kinky Hair Syndrome; Methoxyhydroxyphenylglycol; Norepinephrine; ROC Curve

2009
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.
    American journal of medical genetics. Part A, 2010, Volume: 152A, Issue:10

    Topics: Adenosine Triphosphatases; Amino Acid Substitution; beta 2-Microglobulin; Biological Transport; Biopsy; Blood-Brain Barrier; Brain; Cation Transport Proteins; Copper; Copper-Transporting ATPases; Dihydroxyphenylalanine; DNA; Ectoderm; Humans; Infant; Male; Menkes Kinky Hair Syndrome; Methoxyhydroxyphenylglycol; Mosaicism; Mutation; Mutation, Missense; Reference Values; Skin

2010
Neonatal diagnosis and treatment of Menkes disease.
    The New England journal of medicine, 2008, Feb-07, Volume: 358, Issue:6

    Topics: 3,4-Dihydroxyphenylacetic Acid; Adenosine Triphosphatases; Biomarkers; Cation Transport Proteins; Copper; Copper-Transporting ATPases; DNA Mutational Analysis; Dopamine; Dopamine beta-Hydroxylase; Early Diagnosis; Female; Humans; Infant, Newborn; Longitudinal Studies; Male; Menkes Kinky Hair Syndrome; Methoxyhydroxyphenylglycol; Mutation; Neonatal Screening; Norepinephrine; Pedigree; Reading Frames; Sensitivity and Specificity; Survival Analysis; Treatment Outcome

2008
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.
    Nature genetics, 1994, Volume: 8, Issue:2

    Topics: Adenosine Triphosphatases; Adolescent; Animals; Base Sequence; Carrier Proteins; Cation Transport Proteins; Cells, Cultured; Ceruloplasmin; Copper; Copper-Transporting ATPases; Dihydroxyphenylalanine; DNA Mutational Analysis; Ehlers-Danlos Syndrome; Exons; Female; Fibroblasts; Humans; Male; Menkes Kinky Hair Syndrome; Methoxyhydroxyphenylglycol; Mice; Mice, Neurologic Mutants; Molecular Sequence Data; Occipital Bone; Pedigree; Phenotype; Point Mutation; Polymerase Chain Reaction; Recombinant Fusion Proteins; RNA Splicing; Sequence Homology, Amino Acid; Species Specificity; Terminator Regions, Genetic

1994