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pteridines and Metal Metabolism, Inborn Errors

pteridines has been researched along with Metal Metabolism, Inborn Errors in 13 studies

Metal Metabolism, Inborn Errors: Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero.

Research

Studies (13)

TimeframeStudies, this research(%)All Research%
pre-19901 (7.69)18.7374
1990's2 (15.38)18.2507
2000's1 (7.69)29.6817
2010's6 (46.15)24.3611
2020's3 (23.08)2.80

Authors

AuthorsStudies
Spiegel, R1
Schwahn, BC1
Squires, L1
Confer, N1
Warnhoff, K1
Hercher, TW1
Mendel, RR1
Ruvkun, G1
Sewell, AK1
Han, M1
Mayr, SJ1
Sass, JO2
Vry, J1
Kirschner, J1
Mader, I1
Hövener, JB1
Reiss, J4
Santamaria-Araujo, JA2
Schwarz, G2
Grünert, SC1
Scelsa, B1
Gasperini, S1
Righini, A1
Iascone, M1
Brazzoduro, VG1
Veggiotti, P1
Jakubiczka-Smorag, J1
Metz, I1
Kumar, A1
Hakroush, S1
Brueck, W1
Burfeind, P1
Smorag, L1
Zaki, MS1
Selim, L1
El-Bassyouni, HT1
Issa, MY1
Mahmoud, I1
Ismail, S1
Girgis, M1
Sadek, AA1
Gleeson, JG1
Abdel Hamid, MS1
Sie, SD1
de Jonge, RC1
Blom, HJ1
Mulder, MF1
Vermeulen, RJ1
Peeters-Scholte, CM1
Mills, PB1
Footitt, EJ1
Ceyhan, S1
Waters, PJ1
Jakobs, C1
Clayton, PT1
Struys, EA1
Kishikawa, M1
Puttinger, R1
Erwa, W1
Shimizu, A1
Sperl, W1
Johnson, JL1
Waud, WR1
Rajagopalan, KV1
Duran, M1
Beemer, FA1
Wadman, SK1
van Gennip, AH1
Abeling, NG1
Stroomer, AE1
Overmars, H1
Bakker, HD1
Matsuishi, T1
Ishibashi, S1
Nakashima, M1
Satoi, M1

Reviews

2 reviews available for pteridines and Metal Metabolism, Inborn Errors

ArticleYear
Learning from the worm: the effectiveness of protein-bound Moco to treat Moco deficiency.
    Genes & development, 2021, 02-01, Volume: 35, Issue:3-4

    Topics: Animals; Caenorhabditis elegans; Coenzymes; Humans; Metal Metabolism, Inborn Errors; Metalloproteins

2021
[Molybdenum cofactor deficiency].
    Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2

    Topics: Biomarkers; Coenzymes; Cysteine; Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; M

1998

Other Studies

11 other studies available for pteridines and Metal Metabolism, Inborn Errors

ArticleYear
Molybdenum cofactor deficiency: A natural history.
    Journal of inherited metabolic disease, 2022, Volume: 45, Issue:3

    Topics: Coenzymes; Humans; Infant, Newborn; Metal Metabolism, Inborn Errors; Metalloproteins; Prospective St

2022
Protein-bound molybdenum cofactor is bioavailable and rescues molybdenum cofactor-deficient
    Genes & development, 2021, 02-01, Volume: 35, Issue:3-4

    Topics: Animals; Bacteria; Biological Transport; Caenorhabditis elegans; Coenzymes; Humans; Metal Metabolism

2021
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.
    Journal of inherited metabolic disease, 2018, Volume: 41, Issue:2

    Topics: Age of Onset; Carbon-Carbon Lyases; Child; Child, Preschool; Coenzymes; Diet, Protein-Restricted; Fr

2018
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.
    Molecular genetics & genomic medicine, 2019, Volume: 7, Issue:6

    Topics: Child; Coenzymes; Female; Homozygote; Humans; Metal Metabolism, Inborn Errors; Metalloproteins; Moly

2019
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.
    Human genetics, 2016, Volume: 135, Issue:7

    Topics: Animals; Apoptosis; Carbon-Carbon Lyases; Coenzymes; Cysteine; Disease Models, Animal; Gene Expressi

2016
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2016, Volume: 20, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Coenzymes; Egypt; Humans; Infant, Newborn; Infant, Newborn, Di

2016
Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    Topics: Anticonvulsants; Brain; Brain Waves; Coenzymes; Diffusion Magnetic Resonance Imaging; Electroencepha

2010
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
    Journal of inherited metabolic disease, 2012, Volume: 35, Issue:6

    Topics: 2-Aminoadipic Acid; Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Coenzymes; Cysteine; Hu

2012
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:1

    Topics: Coenzymes; Female; Homocysteine; Humans; Infant, Newborn; Magnetic Resonance Imaging; Metal Metaboli

2003
Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.
    Proceedings of the National Academy of Sciences of the United States of America, 1980, Volume: 77, Issue:6

    Topics: Child, Preschool; Coenzymes; Female; Fibroblasts; Humans; Immunologic Techniques; Intellectual Disab

1980
The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile.
    Journal of inherited metabolic disease, 1994, Volume: 17, Issue:1

    Topics: Amino Acids; Child, Preschool; Chromatography, High Pressure Liquid; Coenzymes; Humans; Infant, Newb

1994