المؤلفون: Hall R; Heart, Lung, Blood and Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, Pennsylvania, USA; Department of Pharmacology and Chemical Biology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Yuan S; Heart, Lung, Blood and Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Wood K; Heart, Lung, Blood and Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Katona M; Heart, Lung, Blood and Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Straub AC; Heart, Lung, Blood and Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, Pennsylvania, USA; Department of Pharmacology and Chemical Biology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA; Center for Microvascular Research, University of Pittsburgh, Pittsburgh, Pennsylvania, USA. Electronic address: astraub@pitt.edu.

المصدر: The Journal of biological chemistry [J Biol Chem] 2022 Dec; Vol. 298 (12), pp. 102654. Date of Electronic Publication: 2022 Oct 29.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome-B(5) Reductase*/genetics , Cytochrome-B(5) Reductase*/metabolism , Methemoglobinemia*/congenital , Methemoglobinemia*/genetics, Humans ; Cytochromes b5/metabolism ; Oxidation-Reduction ; Homeostasis ; Cytochrome Reductases/metabolism

المؤلفون: Molina Herranz D; Servicio de Pediatría, Hospital Universitario Miguel Servet, Paseo Isabel la Católica, 1-3, 50009 Zaragoza, Spain. Electronic address: dmolinaherranz@gmail.com., García Escudero C; Unidad de Neonatología, Servicio de Pediatría, Hospital Universitario Miguel Servet, Paseo Isabel la Católica, 1-3, 50009 Zaragoza, Spain. Electronic address: cgarciaes@salud.aragon.es., Rite Gracia S; Unidad de Neonatología, Servicio de Pediatría, Hospital Universitario Miguel Servet, Paseo Isabel la Católica, 1-3, 50009 Zaragoza, Spain. Electronic address: sriteg@salud.aragon.es., Aguilar de la Red Y; Unidad de Oncología y Hematología pediátrica, Servicio de Pediatría, Hospital Universitario Miguel Servet, Paseo Isabel la Católica 1-3, 50009 Zaragoza, Spain., Martínez Nieto J; Servicio de Hematología, Hospital Universitario San Carlos, Calle del Prof Martín Lagos, s/n, 28040 Madrid, Spain., Izquierdo Álvarez S; Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet, Paseo Isabel la Católica, 1-3, 50009 Zaragoza, Spain. Electronic address: sizquierdo@salud.aragon.es., Montañés Gracia MA; Servicio de Hematología, Hospital Universitario Miguel Servet, Paseo Isabel la Católica, 1-3, 50009 Zaragoza, Spain., Recasens V; Servicio de Hematología, Hospital Universitario Miguel Servet, Paseo Isabel la Católica, 1-3, 50009 Zaragoza, Spain. Electronic address: vrecasens@salud.aragon.es., Hernández Mata CF; Servicio de Hematología, Hospital Universitario Miguel Servet, Paseo Isabel la Católica, 1-3, 50009 Zaragoza, Spain.

المصدر: Clinical biochemistry [Clin Biochem] 2022 Apr; Vol. 102, pp. 67-70. Date of Electronic Publication: 2022 Jan 31.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0133660 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2933 (Electronic) Linking ISSN: 00099120 NLM ISO Abbreviation: Clin Biochem Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome-B(5) Reductase*/genetics , Methemoglobinemia*/complications , Methemoglobinemia*/congenital , Methemoglobinemia*/genetics, Cyanosis/genetics ; Female ; Gene Frequency ; Homozygote ; Humans ; Infant, Newborn

المؤلفون: Deorukhkar A; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, Indian Council of Medical Research, 13th Floor, New Multi-Storeyed Building, King Edward Memorial (KEM.) Hospital Campus, Parel, Mumbai, 400012, India., Kulkarni A; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, Indian Council of Medical Research, 13th Floor, New Multi-Storeyed Building, King Edward Memorial (KEM.) Hospital Campus, Parel, Mumbai, 400012, India., Kedar P; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, Indian Council of Medical Research, 13th Floor, New Multi-Storeyed Building, King Edward Memorial (KEM.) Hospital Campus, Parel, Mumbai, 400012, India. kedarps2002@yahoo.com.

المصدر: Molecular biology reports [Mol Biol Rep] 2022 Mar; Vol. 49 (3), pp. 2141-2147. Date of Electronic Publication: 2022 Jan 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome-B(5) Reductase*/deficiency , Cytochrome-B(5) Reductase*/genetics , Methemoglobinemia*/diagnosis , Methemoglobinemia*/genetics , Mutation*, Genes, Recessive ; Humans ; Sequence Analysis, DNA

المؤلفون: 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.

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

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Cytochrome-B(5) Reductase/*genetics , Methemoglobinemia/*congenital, Amino Acid Substitution ; Animals ; Cytochrome-B(5) Reductase/deficiency ; Dogs ; Female ; Genetic Predisposition to Disease ; Hemoglobins/metabolism ; Male ; Methemoglobin/metabolism ; Methemoglobinemia/genetics ; Methemoglobinemia/metabolism ; Prospective Studies

SCR Disease Name: Congenital Methemoglobinemia

المؤلفون: Gupta V; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, King Edward Memorial Hospital Campus, Mumbai, India., Kulkarni A; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, King Edward Memorial Hospital Campus, Mumbai, India., Warang P; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, King Edward Memorial Hospital Campus, Mumbai, India., Devendra R; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, King Edward Memorial Hospital Campus, Mumbai, India., Chiddarwar A; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, King Edward Memorial Hospital Campus, Mumbai, India., Kedar P; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, King Edward Memorial Hospital Campus, Mumbai, India.

المصدر: Human mutation [Hum Mutat] 2020 Apr; Vol. 41 (4), pp. 737-748. Date of Electronic Publication: 2020 Jan 30.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Recessive* , Genetic Association Studies*/methods , Genetic Predisposition to Disease* , Mutation*, Cytochrome-B(5) Reductase/*genetics , Methemoglobinemia/*congenital, Alleles ; Amino Acid Substitution ; Cytochrome-B(5) Reductase/chemistry ; Genotype ; Humans ; Methemoglobinemia/diagnosis ; Methemoglobinemia/genetics ; Models, Molecular ; Phenotype ; Protein Conformation ; Structure-Activity Relationship

SCR Disease Name: Congenital Methemoglobinemia

المؤلفون: Zhou S; School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia., Tearle R; School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia., Jozani RJ; School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia., Winra B; School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia., Schaaf O; School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia., Nicholson A; School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia., Peaston A; School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia.

المصدر: Journal of veterinary internal medicine [J Vet Intern Med] 2019 Mar; Vol. 33 (2), pp. 868-873. Date of Electronic Publication: 2019 Feb 14.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Periodicals Country of Publication: United States NLM ID: 8708660 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-1676 (Electronic) Linking ISSN: 08916640 NLM ISO Abbreviation: J Vet Intern Med Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome-B(5) Reductase/*genetics , Dog Diseases/*congenital , Methemoglobinemia/*congenital, Animals ; Australia ; Cyanosis/diagnosis ; Cyanosis/veterinary ; Dog Diseases/genetics ; Dogs ; Female ; Methemoglobinemia/genetics ; Methemoglobinemia/veterinary ; Mutation, Missense

SCR Disease Name: Congenital Methemoglobinemia

المؤلفون: Kedar PS; a National Institute of Immunohematology , Indian Council of Medical Research , Mumbai , India., Gupta V; a National Institute of Immunohematology , Indian Council of Medical Research , Mumbai , India., Warang P; a National Institute of Immunohematology , Indian Council of Medical Research , Mumbai , India., Chiddarwar A; a National Institute of Immunohematology , Indian Council of Medical Research , Mumbai , India., Madkaikar M; a National Institute of Immunohematology , Indian Council of Medical Research , Mumbai , India.

المصدر: Hematology (Amsterdam, Netherlands) [Hematology] 2018 Sep; Vol. 23 (8), pp. 567-573. Date of Electronic Publication: 2018 Feb 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9708388 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1607-8454 (Electronic) Linking ISSN: 10245332 NLM ISO Abbreviation: Hematology Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Recessive* , Mutation, Missense*, Cytochrome-B(5) Reductase/*genetics , Genetic Diseases, Inborn/*genetics , Methemoglobinemia/*genetics, Adult ; Amino Acid Substitution ; Child ; Cytochrome-B(5) Reductase/metabolism ; Female ; Genetic Diseases, Inborn/enzymology ; Humans ; Male ; Methemoglobinemia/enzymology ; Middle Aged

المؤلفون: Shino H; Department of Veterinary Medicine, Faculty of Agriculture, Iwate University, Morioka, Iwate, Japan., Otsuka-Yamasaki Y; Department of Veterinary Medicine, Faculty of Agriculture, Iwate University, Morioka, Iwate, Japan., Sato T; Estie Animal Hospital, Kooriyama, Fukushima, Japan., Ooi K; Ooi Animal Hospital, Kooriyama, Fukushima, Japan., Inanami O; Department of Veterinary Medicine, Graduate School of Veterinary Medicine, Hokkaido University, Sapporo, Hokkaido, Japan., Sato R; Department of Veterinary Medicine, Faculty of Agriculture, Iwate University, Morioka, Iwate, Japan., Yamasaki M; Department of Veterinary Medicine, Faculty of Agriculture, Iwate University, Morioka, Iwate, Japan.

المصدر: Journal of veterinary internal medicine [J Vet Intern Med] 2018 Jan; Vol. 32 (1), pp. 165-171. Date of Electronic Publication: 2018 Jan 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Periodicals Country of Publication: United States NLM ID: 8708660 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-1676 (Electronic) Linking ISSN: 08916640 NLM ISO Abbreviation: J Vet Intern Med Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Cytochrome-B(5) Reductase/*deficiency , Cytochrome-B(5) Reductase/*genetics , Dog Diseases/*genetics , Methemoglobinemia/*congenital, Animals ; Dog Diseases/blood ; Dogs ; Female ; Glutathione/blood ; Heinz Bodies ; Male ; Methemoglobinemia/genetics ; Methemoglobinemia/veterinary ; Sequence Analysis, DNA

SCR Disease Name: Congenital Methemoglobinemia; NADH cytochrome B5 reductase deficiency

المؤلفون: de Geus KF; Department of Internal Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Anas AA, Franssen R, Duijkers FAM, Bikker H, Linthorst GE

المصدر: The Netherlands journal of medicine [Neth J Med] 2018 May; Vol. 76 (4), pp. 194-197.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Van Zuiden Communications Country of Publication: Netherlands NLM ID: 0356133 Publication Model: Print Cited Medium: Internet ISSN: 1872-9061 (Electronic) Linking ISSN: 03002977 NLM ISO Abbreviation: Neth J Med Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome-B(5) Reductase/*deficiency , Cytochrome-B(5) Reductase/*genetics , Methemoglobin/*metabolism , Methemoglobinemia/*congenital , Methemoglobinemia/*genetics, Female ; Humans ; Methemoglobinemia/diagnosis ; Middle Aged

SCR Disease Name: NADH cytochrome B5 reductase deficiency

المؤلفون: Jaffey JA; Department of Veterinary Medicine and Surgery, Veterinary Health Center, University of Missouri, Columbia, MO., Harmon MR; Department of Veterinary Medicine and Surgery, Veterinary Health Center, University of Missouri, Columbia, MO., Villani NA; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO., Creighton EK; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO., Johnson GS; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO., Giger U; Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA., Dodam JR; Department of Veterinary Medicine and Surgery, Veterinary Health Center, University of Missouri, Columbia, MO.

المصدر: Journal of veterinary internal medicine [J Vet Intern Med] 2017 Nov; Vol. 31 (6), pp. 1860-1865. Date of Electronic Publication: 2017 Sep 29.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Periodicals Country of Publication: United States NLM ID: 8708660 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-1676 (Electronic) Linking ISSN: 08916640 NLM ISO Abbreviation: J Vet Intern Med Subsets: MEDLINE

مواضيع طبية MeSH: Cytochrome-B(5) Reductase/*deficiency , Dog Diseases/*genetics , Methemoglobinemia/*veterinary , Methylene Blue/*therapeutic use, Animals ; Blood Gas Analysis/veterinary ; Cytochrome-B(5) Reductase/genetics ; Dog Diseases/drug therapy ; Dogs ; Erythrocytes/enzymology ; Male ; Methemoglobinemia/drug therapy ; Methemoglobinemia/genetics ; Methylene Blue/administration & dosage ; Mutation, Missense ; Whole Genome Sequencing/veterinary