deficiency

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Related to molybdenum cofactor deficiency: Sulfite oxidase deficiency
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Synonyms for deficiency

Synonyms for deficiency

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References in periodicals archive ?
Bamforth FL, Johnson JL, Davidson AGF, Wong LTK, Lockitch G, Applegarth DA: Biochemical investigation of a child with molybdenum cofactor deficiency.
One such compound is an investigational treatment for newborn children with molybdenum cofactor deficiency (MoCD) Type A, a catastrophic, ultra-rare genetic disorder that strikes newborns and currently has no treatment options.
Patients with molybdenum cofactor deficiency have an inability to synthesize the pteridyl moiety of the cofactor essential for the enzymatic activity of XDH, sulfite oxidase, and AO.
1]H-NMR spectroscopy of urine samples led to the diagnosis in all patients with PNP deficiency, xanthinuria, molybdenum cofactor deficiency, Lesch-Nyhan disease, ADA deficiency, and adenylosuccinate lyase deficiency.
Metabolic Replacement Therapy Designed to Prevent Severe Brain Damage, Early Mortality in Infants with Molybdenum Cofactor Deficiency (MoCD) Type A