News tagged with enzyme deficiency
Enzyme's structure reveals basis for head, sex organ deformities
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.
Medical research
Aug 19, 2011 |
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Therapy helps regenerate child's undeveloped bones
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 ...
Diseases, Conditions, Syndromes
Apr 24, 2013 |
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Researchers discover new enzyme function for anemia
Researchers at St. Michael's Hospital have discovered a new function for an enzyme that may protect against organ injury and death from anemia.
Medical research
Oct 03, 2011 |
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Canada launches first gene therapy trial for Fabry disease
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.
Diseases, Conditions, Syndromes
Jan 24, 2013 |
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