Kiuchi, T. et al. Auxiliary liver transplantation for urea-cycle enzyme deficiencies: lessons from three cases.
In other individuals there are enzyme deficiencies analogous to those that occur in female pseudohermaphrodites, although the enzyme deficiencies in males result in fetal androgen deficiency.
He was the quintessential clinician and investigatorscholar, and made significant contributions to the understanding of hereditary anemias due to enzyme deficiencies and hereditary methemoglobinemia.
In the new test, the blood is examined using a process known as tandem mass spectrometry for the enzyme deficiencies that characterize the syndromes.
This enzymatic deficiency, similar to other lysosomal enzyme deficiencies, leads to alteration in cellular architecture.
But why? Google this topic, and you'll be greeted with pages upon pages of articles offering confident explanations about stress or enzyme deficiencies.
Both diseases are rare inherited enzyme deficiencies that allow fatty substances to build up in the body, damaging organs.
Cardiometabolic diseases encompass simple monogenic enzyme deficiencies with well-established pathogenesis and clinical outcomes to complex polygenic diseases such as the cardiometabolic syndrome.
Neurodegenerative diseases caused by lysosomal enzyme deficiencies are catastrophic illnesses with both peripheral organ and central nervous system abnormalities.
Mucopolysaccharidosis type III is a group of four autosomal recessive enzyme deficiencies leading to tissue accumulation of heparan sulfate.
Possible reasons include chromosome abnormalities, such as Down's syndrome; enzyme deficiencies, which can damage eggs and prevent the production of the hormone oestrogen; and autoimmune diseases, where the body effectively turns on itself.
