As many expectant mothers know, getting enough folate is key to avoiding neural tube defects in the baby during pregnancy. But for the individuals who carry certain genetic variants, dealing with folate deficiency can be ...
Jul 1, 2021
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A new therapeutic approach may one day delay neurodegeneration typical of a disease called mucopolysaccharidoses IIIB (MPS IIIB). Neurodegeneration in this condition results from the abnormal accumulation of essential cellular ...
Jun 20, 2018
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The congenital disease favism causes sickness and even jaundice in patients after they consume beans. The culprit is a particular enzyme deficiency, which destroys red blood cells. Scientists from the University Children's ...
Jul 26, 2016
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Thrombotic Thrombocytopenic Purpura (TTP) is a rare disorder caused by an enzyme deficiency. This can be heriditary or can be acquired as an autoimmune condition. Due to the associated excessive activity of a certain protein, ...
Feb 11, 2016
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(HealthDay)—Kanuma (sebelipase alfa) has been approved by the U.S. Food and Drug Administration as the first treatment for a rare but often-deadly disease caused by an enzyme deficiency.
Dec 8, 2015
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A specially engineered, long-lasting form of the enzyme arginase, which converts arginine to ornithine, reduces levels of arginine in the blood after both single and repeated doses in mice with arginase deficiency said researchers ...
Oct 5, 2015
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Four years ago, Janelly Martinez-Amador was confined to a bed, unable to move even an arm or lift her head. At age 3, the fragile toddler had the gross motor skills of a newborn and a ventilator kept her alive.
Apr 24, 2013
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Researchers in Calgary have launched the first gene therapy clinical trial in the world for Fabry disease, a rare inherited enzyme deficiency that can shorten the lifespan of people who have it by as much as 40 years.
Jan 24, 2013
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Researchers at St. Michael's Hospital have discovered a new function for an enzyme that may protect against organ injury and death from anemia.
Oct 3, 2011
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Scientists this month reported the molecular structural basis for severe head deformities and ambiguous sex organs in babies born with Antley-Bixler syndrome accompanied by an enzyme deficiency.
Aug 19, 2011
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