Results 111 to 120 of about 14,038 (209)

A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant

Clinical Case Reports
Key Clinical Message Molybdenum cofactor deficiency is a rare and fatal genetic disorder. Due to recurrence in the family, the etiological diagnosis could have impacted family planning and alertness to future offspring.
Jamal Sayed, Abdallah Nasir, Ahmed Gamal Sayed, Omar A. Alghamdi, Elaf Jameel Alsharif   +4 more
doaj   +1 more source

Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature

Molecular Genetics & Genomic Medicine, 2019
Background Molybdenum cofactor deficiency (MoCD) is a rare autosomal‐recessive disorder that results in the combined deficiency of molybdenum‐dependent enzymes.
Barbara Scelsa, Serena Gasperini, Andrea Righini, Maria Iascone, Valeria G. Brazzoduro, Pierangelo Veggiotti   +5 more
doaj   +1 more source

Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family. [PDF]

Front Genet, 2021
Zhao J, An Y, Jiang H, Wu H, Che F, Yang Y.   +5 more
europepmc   +1 more source

Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency. [PDF]

Cold Spring Harb Mol Case Stud, 2021
Owen MJ, Lenberg J, Feigenbaum A, Gold J, Chau K, Bezares-Orin Z, Ding Y, Chowdhury S, Kingsmore SF.   +8 more
europepmc   +1 more source

Faecal microorganisms in run-off from cattle farming [PDF]

, 2006
Numbers of faecal microbes (faecal coliforms, enterococci, sulphite-reducing clostridia and coliphages) were determined in run-off waters from cattle farms in 1998-2005.
Heinonen-Tanski, Helvi, Huuskonen, Arto, Kuisma, Miia, Nykänen, Arja, Uusi-Kämppä, Jaana   +4 more
core  

Identification of laccase genes in Ganoderma boninense draft genome assembly [PDF]

, 2014
Ganoderma boninense, a soil born fungus, is the main agent of basal stem rot, one of the most devastating diseases of oil palm (Eleais guinensis). Observation of oil palm infection by G.
Breton, Frédéric, Camus-Kulandaivelu, Létizia, Durant-Gasselin, Tristan, Joon Sheong Tan,, Klopp, Christophe, Mercière, Maxime, Syed Alwee, Sharifah Shahrul Rabiah   +6 more
core  

Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency. [PDF]

Neurol Genet, 2020
Misko AL, Liang Y, Kohl JB, Eichler F.
europepmc   +1 more source

Hepatic Sulfite Oxidase

Journal of Biological Chemistry, 1972
Harvey J. Cohen, Sylvia Betcher-Lange, Dale L. Kessler, K.V. Rajagopalan   +3 more
openaire   +1 more source

Catalysis of the Autoxidation of Aquated Sulfur Dioxide by Homogeneous and Heterogeneous Transition Metal Complexes [PDF]

, 1984
The relationship between acid precipitation and the fate of sulfur dioxide (SO_2) and nitrogen oxides (NO_x) in the atmosphere has become the subject of intensive study in recent years.
Boyce, Scott D., Hoffmann, Michael R., Hong, Andrew P., Moberly, Lorraine M.   +3 more
core  

Biosynthesis and assembly of mitochondrial proteins [PDF]

, 1983
A Scarpa, A Tzagoloff, AP Autor, AS Lewin, B Hennig, BC Pressman, C Côte, C Zwizinski, D Lloyd, DD Sabatini, DI Meyer, DI Meyer, DL Stigall, E Schmelzer, G Blobel, G Hallermayer, G Kreibich, G Macino, G Palade, G Schatz, G Schatz, GC Shore, H Freitag, H Freitag, H Korb, H Weiss, HW Heldt, J Subik, JG Conboy, JG Conboy, K Mihara, K Mihara, K Yamauchi, K Yamauchi, LAM Hensgens, M Klingenberg, M Mori, M Mori, M Schleyer, M Teintze, M-L Maccecchini, M-L Maccecchini, MA Harmey, N Nabi, N Nabi, N Nelson, N-H Chua, N-H Chua, P Böhni, P Sonderegger, P Sonderegger, P Walter, P Walter, P Walter, P Walter, PC Heinrich, PC Mcada, R Michel, R Sakakibara, R Zimmermann, R Zimmermann, R Zimmermann, R Zimmermann, RC Jackson, RN Dubois, S Matsuura, S Miura, SM Gasser, SN Graven, T Morita, W Neupert, W Sebald, W Wickner, Y Okada, Y Raymond, Y Raymond   +75 more
core   +1 more source