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  • 1-4 of  4 results for ""Metal Metabolism, Inborn Errors""

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Academic Journal

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.

  • Authors : Kinsinger M; Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.; Ivanisevic J

Subjects: Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/diagnosis ; Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/genetics ; Molybdenum Cofactors*/Molybdenum Cofactors*/Molybdenum Cofactors*/deficiencyMolybdenum cofactor deficiency

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Dec 18; Vol. 17 (1), pp. 292. Date of Electronic Publication: 2024 Dec 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium:

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Academic Journal

A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle.

Subjects: Cattle Diseases/Cattle Diseases/Cattle Diseases/*genetics ; Metal Metabolism, Inborn Errors/Metal Metabolism, Inborn Errors/Metal Metabolism, Inborn Errors/*genetics ; Phospholipase D/Phospholipase D/Phospholipase D/*genetics

  • Source: BMC genomics [BMC Genomics] 2014 Jul 22; Vol. 15, pp. 623. Date of Electronic Publication: 2014 Jul 22.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Microsatellite marker C04107 as a diagnostic marker for copper toxicosis in the Danish population of Bedlington terriers.

  • Authors : Proschowsky HF; Department of Animal Science and Health, The Royal Veterinary and Agricultural University, Frederiksberg, Denmark. ; Jepsen B

Subjects: Microsatellite Repeats*; Copper/Copper/Copper/*toxicity ; Dog Diseases/Dog Diseases/Dog Diseases/*genetics

  • Source: Acta veterinaria Scandinavica [Acta Vet Scand] 2000; Vol. 41 (4), pp. 345-50.Publisher: BioMed Central Country of Publication: England NLM ID: 0370400 Publication Model: Print Cited Medium: Print

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CLASH: Complementary Linkage with Anchoring and Scoring for Heterogeneous biomolecular and clinical data.

Subjects: TEXT mining; ALGORITHMS; ANCHORING effect

  • Source: BMC Medical Informatics & Decision Making; 7/25/2016, Vol. 16, p163-208, 11p, 3 Diagrams, 3 Charts, 2 Graphs

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  • 1-4 of  4 results for ""Metal Metabolism, Inborn Errors""