Page last updated: 2024-08-17

histidine and Congenital Hypocupremia

histidine has been researched along with Congenital Hypocupremia in 44 studies

Research

Studies (44)

TimeframeStudies, this research(%)All Research%
pre-19904 (9.09)18.7374
1990's13 (29.55)18.2507
2000's14 (31.82)29.6817
2010's12 (27.27)24.3611
2020's1 (2.27)2.80

Authors

AuthorsStudies
Chomtho, S; Kwanbunbumpen, T; Panichsillaphakit, E; Visuthranukul, C1
Flores-Pulido, AA; García-Chong, NR; Jiménez-Pérez, VM1
Hurst, A; Lose, E; Mikhail, FM; Philips, JB; Stoops, C; Woodfin, T1
Congradyova, A; Gala, L; Jomova, K; Lawson, M; Mazur, M; Valko, M; Zelenicky, L1
Burt, MB; Marta, RA; McMahon, TB; Ziegler, BE1
Awano, H; Iijima, K; Kodama, H; Kusunoki, N; Lee, T; Takeshima, Y; Yagi, M1
Cheon, CK; Choi, JH; Kim, GH; Kim, JH; Kim, YM; Lee, BH; Yoo, HW1
Chiu, NC; Chuang, CK; Ho, CS; Hsu, CH; Lin, HY; Lin, JL; Lin, SP; Lin, YJ; Tsai, JD1
Kimura, S; Kinebuchi, M; Kiyono, T; Matsuura, A; Nomura, Y1
Balestracci, A; Caletti, MG; Missoni, M1
Endreffy, E; Horn, N; László, A; Szabó, J; Tümer, Z1
Gu, YH; Kato, T; Kodama, H1
Centeno, JA; Gahl, WA; Goldstein, DS; Haddad, MR; Holmes, CS; Jacobson, BE; Kaler, SG; Macri, CJ; Popek, EJ1
Baeza, I; de León-García, C; Henrríquez-Esquíroz, JM; León-García, G; Pérez-González, C; Santana, A; Villegas-Sepúlveda, N; Wong, C1
Igarashi, T; Kawaguchi, H; Kobayashi, M; Kodama, H; Mochizuki, T; Ozawa, H1
Deschamps, P; Kulkarni, PP; Sarkar, B1
Hasegawa, T; Hoshino, K; Ishii, T; Kodama, H; Matsuo, N; Morikawa, Y; Sasaki, G; Sato, S; Takahashi, T1
Hamasaki, Y; Kodama, H; Matsuo, M; Tasaki, R1
Hentze, BW; Hoppe-Tichy, T; Lorke, M; Nguyen, TH1
Haginoya, K; Higano, S; Iinuma, K; Ishitobi, M; Kitamura, T; Kobayashi, Y; Munakata, M; Ohura, T; Onuma, A; Sakamoto, O; Takahashi, S; Tamura, H; Togashi, N; Yokoyama, H1
George, S; Matthai, SA; Sosamma, MM; Sukumaran, TU1
Brunner-Krainz, M; Deutsch, J; Kroepfl, T; Mair, E; Paschke, E; Plecko, B1
Brinster, LR; Centeno, JA; Godwin, SC; Kaler, SG; Lal, S; Lem, KE; Liu, PC; Lizak, M; Tjurmina, O1
Houston, CS; Tchang, S; Waslen, TA1
Andrews, NC; Lin, W; Trenor, C1
Chan, WY; Garnica, A; Rennert, O1
Dralle, D; Fuder, H; Horn, N; Kreuder, J; Otten, A; Tümer, Z; Tønnesen, T1
Clarke, JT; Lingertat-Walsh, K; Sarkar, B1
Christodoulou, J; Clarke, JT; Horn, N; Sarkar, B; Tümer, Z; Tønnesen, T1
Kaler, SG1
Sarkar, B1
Gangakhedkar, AK; Kabra, M; Manoj, R; Pasi, GR; Verma, IC1
Baerlocher, KE; Casey, R; Christodoulou, J; Clarke, JT; Danks, DM; Horn, N; Sarkar, B; Tümer, Z1
Bertini, E; Dionisi-Vici, C; Federici, G; Leuzzi, V; Luchetti, A; Piemonte, F; Rizzo, C; Sabetta, G1
Arzimanoglou, A; Blanc, N; Castelnau, P; Evrard, P; Ogier, H; Sfaello, I1
Acar, V; Bénazeth, S; Chaumeil, JC; Corriol, O; Curis, E; Deschamps, P; Guyon, F; Nicolis, I; Zerrouk, N1
Gogtay, NJ; Kirodian, BG; Kshirsagar, NA; Udani, VP1
Clopath, P; Dipaolo, R; kanfer, JN; Lott, IT; Milunsky, A; Raghavan, SS; Robertson, WC1
Hamaguchi, H; Naito, H; Nakamoto, N; Nihei, K1
Hara, M; Igarashi, H; Ito, S; Kondo, Y; Tagami, H; Tomita, Y; Yoshimura, T1
Harris, ED1
Kortsak, AS; Sarkar, B; Sherwood, G1
Baerlocher, K; Nadal, D1
Danks, DM1

Reviews

2 review(s) available for histidine and Congenital Hypocupremia

ArticleYear
Copper-histidine therapy in an infant with novel splice-site variant in the
    BMJ case reports, 2022, Apr-07, Volume: 15, Issue:4

    Topics: Adenosine Triphosphatases; Asia, Eastern; Cation Transport Proteins; Ceruloplasmin; Copper; Copper-Transporting ATPases; Epilepsy; Histidine; Humans; Infant; Male; Menkes Kinky Hair Syndrome; Mutation; Organometallic Compounds; Peptide Fragments

2022
Copper transport: an overview.
    Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1991, Volume: 196, Issue:2

    Topics: Animals; Ascorbic Acid; Biological Transport, Active; Ceruloplasmin; Copper; Glutathione; Histidine; Intestines; Menkes Kinky Hair Syndrome; Metallothionein; Mice; Rats; Serum Albumin

1991

Other Studies

42 other study(ies) available for histidine and Congenital Hypocupremia

ArticleYear
Síntesis y uso de histidinato de cobre en niños con enfermedad de Menkes en México.
    Gaceta medica de Mexico, 2019, Volume: 155, Issue:2

    Topics: Child, Preschool; Copper; Drug Compounding; Histidine; Humans; Infant; Menkes Kinky Hair Syndrome; Mexico; Organometallic Compounds; Pharmaceutical Solutions; Quality of Life

2019
Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).
    Molecular genetics & genomic medicine, 2019, Volume: 7, Issue:8

    Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosomes, Human, Pair 17; Comparative Genomic Hybridization; Copper-Transporting ATPases; DNA Mutational Analysis; Fatal Outcome; Genetic Testing; Histidine; Humans; Hypertension, Pulmonary; Infant, Newborn; Intellectual Disability; Male; Medical History Taking; Menkes Kinky Hair Syndrome; Mutation; Nitric Oxide; Organometallic Compounds; Pedigree; Respiratory Insufficiency

2019
EPR spectroscopy of a clinically active (1:2) copper(II)-histidine complex used in the treatment of Menkes disease: a Fourier transform analysis of a fluid CW-EPR spectrum.
    Molecules (Basel, Switzerland), 2014, Jan-15, Volume: 19, Issue:1

    Topics: Coordination Complexes; Electron Spin Resonance Spectroscopy; Fourier Analysis; Histidine; Humans; Hydrogen-Ion Concentration; Menkes Kinky Hair Syndrome; Molecular Conformation; Organometallic Compounds; Solutions

2014
Insight into the gas-phase structure of a copper(II) L-histidine complex, the agent used to treat Menkes disease.
    Inorganic chemistry, 2014, Mar-03, Volume: 53, Issue:5

    Topics: Gases; Histidine; Menkes Kinky Hair Syndrome; Models, Molecular; Organometallic Compounds; Phase Transition; Thermodynamics

2014
[Clinical manifestations of Menkes disease vary according to patient's genotype and the initiation time of treatment with copper-histidine injections].
    No to hattatsu = Brain and development, 2014, Volume: 46, Issue:3

    Topics: Adenosine Triphosphatases; Brain; Cation Transport Proteins; Copper; Copper-Transporting ATPases; Frameshift Mutation; Genotype; Histidine; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Menkes Kinky Hair Syndrome; Mutation, Missense; Time Factors; Treatment Outcome

2014
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
    Metabolic brain disease, 2015, Volume: 30, Issue:1

    Topics: Adenosine Triphosphatases; Cation Transport Proteins; Cerebral Infarction; Ceruloplasmin; Chromosomes, Human, X; Codon, Nonsense; Copper; Copper-Transporting ATPases; DNA Mutational Analysis; Early Diagnosis; Early Medical Intervention; Exons; Female; Frameshift Mutation; Histidine; Humans; Infant; Infant, Newborn; Injections, Subcutaneous; Korea; Magnetic Resonance Angiography; Male; Menkes Kinky Hair Syndrome; Mutation, Missense; RNA Splice Sites; Sequence Deletion; Treatment Failure; X Chromosome Inactivation

2015
A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.
    Pediatrics and neonatology, 2017, Volume: 58, Issue:1

    Topics: Adenosine Triphosphatases; Cation Transport Proteins; Copper-Transporting ATPases; Histidine; Humans; Infant; Male; Menkes Kinky Hair Syndrome; Organometallic Compounds; Point Mutation

2017
Diagnostic copper imaging of Menkes disease by synchrotron radiation-generated X-ray fluorescence analysis.
    Scientific reports, 2016, 09-15, Volume: 6

    Topics: Central Nervous System; Copper; Copper-Transporting ATPases; Fluorescence; Histidine; Humans; Kidney; Menkes Kinky Hair Syndrome; Mutation; Radiography; Synchrotrons; X-Rays

2016
A case of Menkes' disease with nephrocalcinosis and chronic renal failure.
    Pediatric nephrology (Berlin, Germany), 2009, Volume: 24, Issue:6

    Topics: beta 2-Microglobulin; Follow-Up Studies; Histidine; Humans; Hypercalciuria; Infant; Kidney Failure, Chronic; Male; Menkes Kinky Hair Syndrome; Nephrocalcinosis; Organometallic Compounds; Time Factors; Treatment Outcome; Ultrasonography

2009
Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis.
    Ideggyogyaszati szemle, 2010, Jan-30, Volume: 63, Issue:1-2

    Topics: Adenosine Triphosphatases; Arginine; Cation Transport Proteins; Chorionic Villi Sampling; Copper-Transporting ATPases; DNA Mutational Analysis; Exons; Fatal Outcome; Female; Heterozygote; Histidine; Humans; Infant; Male; Menkes Kinky Hair Syndrome; Mutation, Missense; Polymerase Chain Reaction; Prenatal Diagnosis; Young Adult

2010
Congenital abnormalities in Japanese patients with Menkes disease.
    Brain & development, 2012, Volume: 34, Issue:9

    Topics: Abnormalities, Multiple; Adenosine Triphosphatases; Adolescent; Age of Onset; Asian People; Cation Transport Proteins; Child, Preschool; Copper-Transporting ATPases; Histidine; Humans; Infant; Male; Menkes Kinky Hair Syndrome; Mutation; Organometallic Compounds; Retrospective Studies; Statistics, Nonparametric

2012
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.
    Molecular genetics and metabolism, 2012, Volume: 107, Issue:1-2

    Topics: Adenosine Triphosphatases; Catechols; Cation Transport Proteins; Ceruloplasmin; Copper; Copper-Transporting ATPases; Female; Fetal Death; Fetus; Histidine; Humans; Menkes Kinky Hair Syndrome; Mutation; Organometallic Compounds; Placenta; Pregnancy; Stillbirth

2012
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.
    BMC pediatrics, 2012, Sep-19, Volume: 12

    Topics: Adenosine Triphosphatases; Cation Transport Proteins; Copper-Transporting ATPases; Histidine; Humans; Infant; Male; Menkes Kinky Hair Syndrome; Mutation; Organometallic Compounds; Pedigree

2012
Renal function in patients with Menkes disease.
    European journal of pediatrics, 2003, Volume: 162, Issue:1

    Topics: Copper; Histidine; Humans; Kidney Tubules, Proximal; Menkes Kinky Hair Syndrome; Organometallic Compounds

2003
X-ray structure of physiological copper(II)-bis(L-histidinato) complex.
    Inorganic chemistry, 2004, May-31, Volume: 43, Issue:11

    Topics: Copper; Crystallography, X-Ray; Histidine; Humans; Hydrogen Bonding; Ligands; Menkes Kinky Hair Syndrome; Molecular Structure; Organometallic Compounds

2004
Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy.
    European journal of pediatrics, 2004, Volume: 163, Issue:12

    Topics: Child, Preschool; Copper; Endoscopy, Gastrointestinal; Histidine; Humans; Male; Menkes Kinky Hair Syndrome; Mouth Diseases; Palate; Pharyngeal Diseases; Polyps; Pyloric Antrum; Stomach Diseases

2004
Screening for Menkes disease using the urine HVA/VMA ratio.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:1

    Topics: Alleles; Chromatography, High Pressure Liquid; Copper; Dopamine beta-Hydroxylase; Dose-Response Relationship, Drug; Histidine; Homovanillic Acid; Humans; Menkes Kinky Hair Syndrome; Pilot Projects; Time Factors; Vanilmandelic Acid

2005
[Manufacturing and stability of copper-histidine solution for treatment of Menkes' Kinky Hair Syndrome].
    Die Pharmazie, 2005, Volume: 60, Issue:3

    Topics: Copper; Drug Compounding; Drug Stability; Histidine; Kinetics; Menkes Kinky Hair Syndrome; Pharmaceutical Solutions; Solubility; Spectrophotometry, Ultraviolet

2005
The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease: a proton magnetic resonance spectroscopic study.
    Brain & development, 2005, Volume: 27, Issue:4

    Topics: Brain; Ceruloplasmin; Copper; Histidine; Humans; Infant; Magnetic Resonance Spectroscopy; Male; Menkes Kinky Hair Syndrome; Organometallic Compounds; Protons

2005
Menkes' kinky hair syndrome.
    Indian journal of pediatrics, 2005, Volume: 72, Issue:10

    Topics: Cerebral Angiography; Ceruloplasmin; Copper; Histidine; Humans; Infant; Infant, Low Birth Weight; Infant, Newborn; Injections, Subcutaneous; Male; Menkes Kinky Hair Syndrome; Organometallic Compounds; Prognosis

2005
Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes disease.
    Journal of inherited metabolic disease, 2006, Volume: 29, Issue:4

    Topics: Child; Child, Preschool; Copper; Histidine; Humans; Infant; Liver; Menkes Kinky Hair Syndrome; Organometallic Compounds; Time Factors

2006
Safety of intracerebroventricular copper histidine in adult rats.
    Molecular genetics and metabolism, 2007, Volume: 91, Issue:1

    Topics: Animals; Brain; Brain Edema; Dose-Response Relationship, Drug; Histidine; Injections, Intraventricular; Magnetic Resonance Imaging; Male; Maximum Tolerated Dose; Menkes Kinky Hair Syndrome; Organometallic Compounds; Radiography; Rats; Rats, Sprague-Dawley; Time Factors

2007
Menkes' kinky-hair disease: radiologic findings in a patient treated with copper histidinate.
    Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes, 1995, Volume: 46, Issue:2

    Topics: Brain; Child; Follow-Up Studies; Histidine; Humans; Infant, Newborn; Magnetic Resonance Angiography; Magnetic Resonance Imaging; Male; Menkes Kinky Hair Syndrome; Organometallic Compounds; Tomography, X-Ray Computed

1995
Novel bacterial P-type ATPases with histidine-rich heavy-metal-associated sequences.
    Biochemical and biophysical research communications, 1994, Dec-30, Volume: 205, Issue:3

    Topics: Adenosine Triphosphatases; Amino Acid Sequence; Bacteria; Base Sequence; Cloning, Molecular; DNA Probes; DNA, Complementary; Escherichia coli; Gene Library; Hepatolenticular Degeneration; Histidine; Humans; Menkes Kinky Hair Syndrome; Metals; Molecular Sequence Data; Sequence Homology, Amino Acid; Species Specificity

1994
Copper-histidine treatment of Menkes disease.
    The Journal of pediatrics, 1994, Volume: 125, Issue:2

    Topics: Copper; Drug Therapy, Combination; Histidine; Humans; Infant, Newborn; Male; Menkes Kinky Hair Syndrome; Mutation

1994
Clinical and biochemical consequences of copper-histidine therapy in Menkes disease.
    European journal of pediatrics, 1993, Volume: 152, Issue:10

    Topics: Bone and Bones; Catecholamines; Ceruloplasmin; Copper; Drug Combinations; Female; Histidine; Humans; Infant; Male; Menkes Kinky Hair Syndrome; Radiography

1993
Copper-histidine therapy for Menkes disease.
    The Journal of pediatrics, 1993, Volume: 123, Issue:5

    Topics: Adolescent; Ceruloplasmin; Child; Copper; Drug Therapy, Combination; Histidine; Humans; Infant; Male; Menkes Kinky Hair Syndrome; Retrospective Studies

1993
Early copper-histidine treatment for Menkes disease.
    Nature genetics, 1996, Volume: 12, Issue:1

    Topics: Age Factors; Base Sequence; Copper; DNA Primers; Histidine; Humans; Menkes Kinky Hair Syndrome; Molecular Sequence Data; Point Mutation

1996
Menkes disease mutations and response to early copper histidine treatment.
    Nature genetics, 1996, Volume: 13, Issue:1

    Topics: Adenosine Triphosphatases; Carrier Proteins; Cation Transport Proteins; Copper; Copper-Transporting ATPases; Exons; Histidine; Humans; Menkes Kinky Hair Syndrome; Mutation; Organometallic Compounds; Polymerase Chain Reaction; Recombinant Fusion Proteins

1996
Early copper histidine therapy in classic Menkes disease.
    Annals of neurology, 1997, Volume: 41, Issue:1

    Topics: Adolescent; Child; Histidine; Humans; Menkes Kinky Hair Syndrome; Organometallic Compounds; Time Factors

1997
Menkes' Kinky Hair disease: new considerations.
    Indian pediatrics, 1996, Volume: 33, Issue:11

    Topics: Fatal Outcome; Histidine; Humans; Infant; Male; Menkes Kinky Hair Syndrome; Organometallic Compounds

1996
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.
    American journal of medical genetics, 1998, Mar-05, Volume: 76, Issue:2

    Topics: Adolescent; Adult; Child; Copper; Drug Therapy, Combination; Follow-Up Studies; Histidine; Humans; Male; Menkes Kinky Hair Syndrome; Radiography

1998
Oxidative abnormalities in Menkes disease.
    Journal of inherited metabolic disease, 2000, Volume: 23, Issue:4

    Topics: Cells, Cultured; Ceruloplasmin; Copper; Cytochrome-c Oxidase Deficiency; Fibroblasts; Histidine; Humans; Lactic Acid; Menkes Kinky Hair Syndrome; Organometallic Compounds; Oxidation-Reduction; Treatment Outcome

2000
Infantile spasms and Menkes disease.
    Epileptic disorders : international epilepsy journal with videotape, 2000, Volume: 2, Issue:4

    Topics: Brain; Ceruloplasmin; Copper; Electroencephalography; Histidine; Humans; Infant; Infant, Newborn; Lactic Acid; Magnetic Resonance Angiography; Magnetic Resonance Imaging; Male; Menkes Kinky Hair Syndrome; Organometallic Compounds; Spasms, Infantile; Ultrasonography, Doppler

2000
XAS applied to pharmaceuticals: drug administration and bioavailability.
    Journal of synchrotron radiation, 2001, Mar-01, Volume: 8, Issue:Pt 2

    Topics: Arsenic Trioxide; Arsenicals; Biological Availability; Chemistry, Pharmaceutical; Hair; Histidine; Humans; Leukemia, Promyelocytic, Acute; Menkes Kinky Hair Syndrome; Organometallic Compounds; Oxides; Parenteral Nutrition; Spectrometry, X-Ray Emission; Synchrotrons; Zinc

2001
Treatment of Menkes disease with parenteral copper histidine.
    Indian pediatrics, 2002, Volume: 39, Issue:2

    Topics: Follow-Up Studies; Histidine; Humans; India; Infant; Injections, Subcutaneous; Male; Menkes Kinky Hair Syndrome; Organometallic Compounds; Treatment Outcome

2002
Abnormal copper metabolism in Menke's steely-hair syndrome.
    Pediatric research, 1979, Volume: 13, Issue:7

    Topics: Blood Proteins; Brain Diseases, Metabolic; Ceruloplasmin; Copper; Fetal Blood; Fibroblasts; Histidine; Humans; Infant; Infant, Newborn; Menkes Kinky Hair Syndrome

1979
[Intramuscular copper histidine treatment in Menkes disease].
    No to hattatsu = Brain and development, 1992, Volume: 24, Issue:3

    Topics: Histidine; Humans; Infant; Injections, Intramuscular; Male; Menkes Kinky Hair Syndrome; Organometallic Compounds

1992
Menkes' disease: report of a case and determination of eumelanin and pheomelanin in hypopigmented hair.
    Dermatology (Basel, Switzerland), 1992, Volume: 185, Issue:1

    Topics: Ceruloplasmin; Copper; Hair; Hair Color; Histidine; Humans; Infant; Male; Melanins; Menkes Kinky Hair Syndrome; Pigmentation Disorders

1992
Copper histidinate therapy in Menkes' disease: prevention of progressive neurodegeneration.
    Journal of inherited metabolic disease, 1989, Volume: 12 Suppl 2

    Topics: Brain Diseases, Metabolic; Copper; Histidine; Humans; Infant, Newborn; Male; Menkes Kinky Hair Syndrome; Nerve Degeneration; Organometallic Compounds

1989
Menkes' disease: long-term treatment with copper and D-penicillamine.
    European journal of pediatrics, 1988, Volume: 147, Issue:6

    Topics: Body Fluids; Brain; Brain Diseases, Metabolic; Copper; Drug Therapy, Combination; Electroencephalography; Genes, Recessive; Histidine; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Menkes Kinky Hair Syndrome; Penicillamine; X Chromosome

1988
The mild form of Menkes disease: progress report on the original case.
    American journal of medical genetics, 1988, Volume: 30, Issue:3

    Topics: Brain Diseases, Metabolic; Child; Female; Genetic Linkage; Heterozygote; Histidine; Humans; Infant, Newborn; Male; Menkes Kinky Hair Syndrome; Organometallic Compounds; Phenotype; X Chromosome

1988