Results 161 to 170 of about 14,038 (209)

Brain Magnetic Resonance Imaging of Children With Molybdenum Cofactor Deficiency. [PDF]

J Inherit Metab Dis
Schwahn BC, Sinha R, Wright JAM, Pavaine J.   +3 more
europepmc   +1 more source

Tandem Enzymatic Swarm Communication Enables Collective Nanobot Therapy in Inflammatory Bowel Disease

Hahn SK, Choi H, Seo Y, Kim J, Jeon H, Yang SM, Kim C, Huh J, Sánchez S.   +8 more
europepmc   +1 more source

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Sulfite oxidase deficiency.

Archives of environmental health, 1977
R T, Drew, J L, Johnson, K V, Rajagopalan   +2 more
openaire   +3 more sources

Isolated Sulfite Oxidase Deficiency

Neuropediatrics, 1996
Isolated sulfite oxidase (SO) deficiency is an autosomal recessively inherited inborn error of sulfur metabolism. In this report of a ninth patient the clinical history, laboratory results, neuropathological findings and a mutation in the sulfite oxidase gene are described.
C A, Rupar, J, Gillett, B A, Gordon, D A, Ramsay, J L, Johnson, R M, Garrett, K V, Rajagopalan, J H, Jung, G S, Bacheyie, A R, Sellers   +9 more
openaire   +2 more sources

Isolated sulfite oxidase deficiency

Journal of Inherited Metabolic Disease, 2017
AbstractIsolated sulfite oxidase deficiency (ISOD) is a life‐threatening, autosomal recessive disease characterized by severe neurological impairment. As no long‐term effective treatment is available, distinction from other treatable diseases, such as molybdenum cofactor deficiency (MoCD) type A, should be made.
Helena, Claerhout, Peter, Witters, Luc, Régal, Katrien, Jansen, Marie-Rose, Van Hoestenberghe, Jeroen, Breckpot, Pieter, Vermeersch   +6 more
openaire   +2 more sources

Isolated sulfite oxidase deficiency

Journal of Neonatal-Perinatal Medicine, 2015
Abstract BACKGROUND: Sulfite oxidase deficiency is an uncommon metabolic disease. Only few cases of its isolated form have been reported in the literature. CASE PRESENTATION: We report a case of severe neonatal onset. A newborn baby of 41 weeks gestational age, weighted at birth of 3240 grams and had an Apgar score of 6-10-10.
B, Relinque, L, Bardallo, M, Granero, P J, Jiménez, S, Luna   +4 more
openaire   +2 more sources

Screening for sulfite oxidase deficiency

Clinica Chimica Acta, 1969
Abstract Two screening methods for mass detection of sulfite oxidase deficiency are described. The assay of the rather labile sulfite is performed as bed-side test using a commercially available test paper. For the assay of S- sulfo- l -cysteine a Chromatographic technique on thin-layer cellulose is described. Good stability of S- sulfo-
D, Kutter, R, Humbel
openaire   +2 more sources

Significance of Plant Sulfite Oxidase

Plant Biology, 2007
Abstract: Sulfite oxidizing activities are known since years in animals, microorganisms, and also plants. Among plants, the only enzyme well characterized on molecular and biochemical level is the molybdoenzyme sulfite oxidase (SO). It oxidizes sulfite using molecular oxygen as electron acceptor, leading to the production of sulfate and hydrogen ...
Hänsch, Robert, Lang, Christina, Rennenberg, Heinz, Mendel, Ralf-Rainer   +3 more
openaire   +3 more sources