Histidinemia

Known as: HAL DEFICIENCY, HISTIDASE DEFICIENCY, HISTIDINE AMMONIA-LYASE DEFICIENCY 
An increased concentration of histidine in the blood. [HPO:gcarletti]
National Institutes of Health

Papers overview

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2005
2005
Histidinemia (MIM235800) is characterized by elevated histidine in body fluids and decreased urocanic acid in blood and skin and… (More)
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1995
1995
Histidinemia in mice and in humans is an autosomal recessive disorder of histidine metabolism that leads to high-histidine levels… (More)
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Review
1993
Review
1993
Histidemia, first described by Ghadimi in 1961, is caused by a defect in histidase. The defect results in elevated urinary… (More)
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1990
1990
Our results suggest that the association between the clinical diagnosis of schizophrenic disorder and heterozygosis for… (More)
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1981
1981
A highly specific and sensitive procedure for determining histidase activity, with labeled histidine as the substrate, that… (More)
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1979
1979
A 10-year-old boy first showed features of infantile autism at age 24 months. Histidinemia was also diagnosed, with histidine… (More)
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1979
1979
Control of the plasma histidine level in histidinemia is possible with the use of an amino acid mixture free of histidine and a… (More)
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1975
1975
A case of infantile spasms associated with histidinemia is presented. Histidinemia was well-documented through biochemical assays… (More)
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1975
1975
Two brothers, 6 and 13 years old, had histidinemia. On the basis of clinical and biochemical observations, the younger boy was… (More)
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