Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b 5 reductase deficiency in 30 dogs.

Autor: Jaffey JA; Department of Specialty Medicine, College of Veterinary Medicine, Midwestern University, Glendale, AZ, USA. jjaffe@midwestern.edu.; Department of Veterinary Medicine and Surgery, Veterinary Health Center, University of Missouri, Columbia, MO, USA. jjaffe@midwestern.edu., Reading NS; Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA., Abdulmalik O; Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kreisler R; Department of Pathology and Population Medicine, College of Veterinary Medicine, Midwestern University, Glendale, AZ, USA., Bullock G; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA., Wiest A; Section of Medical Genetics (PennGen), School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA., Villani NA; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA., Mhlanga-Mutangadura T; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA., Johnson GS; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA., Cohn LA; Department of Veterinary Medicine and Surgery, Veterinary Health Center, University of Missouri, Columbia, MO, USA., Isaza N; Department of Small Animal Clinical Sciences, College of Veterinary Medicine, University of Florida, Gainesville, FL, USA., Harvey JW; Department of Physiological Sciences, College of Veterinary Medicine, University of Florida, Gainesville, FL, USA., Giger U; Section of Medical Genetics (PennGen), School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Publikováno v: Scientific reports [Sci Rep] 2020 Dec 08; Vol. 10 (1), pp. 21399. Date of Electronic Publication: 2020 Dec 08.

A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.

Autor: Villani NA; Department of Veterinary Pathobiology, University of Missouri, Columbia, MO, USA., Bullock G; Department of Veterinary Pathobiology, University of Missouri, Columbia, MO, USA., Michaels JR; Angell Animal Medical Center, Boston, MA 02130, USA., Yamato O; Laboratory of Clinical Pathology, Kagoshima University, Kagoshima, Japan., O'Brien DP; Department of Veterinary Pathobiology, University of Missouri, Columbia, MO, USA., Mhlanga-Mutangadura T; Department of Veterinary Pathobiology, University of Missouri, Columbia, MO, USA., Johnson GS; Department of Veterinary Pathobiology, University of Missouri, Columbia, MO, USA., Katz ML; Mason Eye Institute, University of Missouri, Columbia, MO, USA. Electronic address: katzm@health.missouri.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2019 May; Vol. 127 (1), pp. 107-115. Date of Electronic Publication: 2019 Apr 17.

GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.

Autor: Kolicheski A; Department of Veterinary Pathobiology, University of Missouri, Columbia, MO., Johnson GS; Department of Veterinary Pathobiology, University of Missouri, Columbia, MO., Villani NA; Department of Veterinary Pathobiology, University of Missouri, Columbia, MO., O'Brien DP; Department of Veterinary Medicine and Surgery, University of Missouri, Columbia, MO., Mhlanga-Mutangadura T; Department of Veterinary Pathobiology, University of Missouri, Columbia, MO., Wenger DA; Department of Neurology, Jefferson Medical College, Philadelphia, PA., Mikoloski K; Pittsburgh Veterinary Specialty and Emergency Center, Pittsburgh, PA., Eagleson JS; Veterinary Specialty and Emergency Center, Blue Pearl Veterinary Partners, Levittown, PA., Taylor JF; Division of Animal Sciences, University of Missouri, Columbia, MO., Schnabel RD; Division of Animal Sciences and Informatics Institute, University of Missouri, Columbia, MO., Katz ML; Mason Eye Institute, University of Missouri, Columbia, MO.

Publikováno v: Journal of veterinary internal medicine [J Vet Intern Med] 2017 Sep; Vol. 31 (5), pp. 1520-1526. Date of Electronic Publication: 2017 Aug 20.