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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

Related topics

Related topics

7 relations

Broader (3)

Amino Acid Metabolism, Inborn ErrorsHistidine Ammonia-LyaseMental Retardation
Autosomal dominant inheritanceSpeech Disordersautosomal recessive traitcongenital deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
1999
1999
Analysis of diagnostic metabolites by capillary electrophoresis-mass spectrometry.
Review
1991
Review
1991
Histidase and histidinemia. Clinical and molecular considerations.
Histidase (histidine ammonia-lyase, EC 4.3.1.3) catalyzes the deamination of L-histidine to trans-urocanic acid in the liver and… 
Highly Cited
1988
Highly Cited
1988
Outcome of the Patients Detected by Newborn Screening in Japan
A follow‐up study of the cases detected by a newborn mass‐screening program has been performed during 1977–1985 by a… 
1985
1985
Intraperitoneal deferoxamine therapy for aluminum intoxication in a child undergoing continuous ambulatory peritoneal dialysis.
Highly Cited
1974
Highly Cited
1974
Routine newborn screening for histidinemia. Clinical and biochemical results.
Abstract Routine Chromatographic screening of filter-paper urine specimens identified histidinemia in 20 newborn infants, or 1:20… 
1970
1970
Speech and Histidinemia: Methodology and Evaluation of Four Cases
Four unrelated children with histidinemia (histidase deficiency) were studied specifically for characteristics of speech and… 
1970
1970
Histidinemia in two successive generations.
Nine new cases of histidinemia have been found in four different sibships and in two successive generations in the same family… 
1969
1969
Fluorometric determination of histidine.
An accurate and precise fluorometric procedure was developed for the determination of histidine based on the observation that o… 
1968
1968
A case of histidinemia controlled with a low histidine diet.
An attempt to treat a case of histidinemia using a low histidine protein hydrolysate is described. The diet was started at the… 
Highly Cited
1963
Highly Cited
1963
CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA.
Studies on two siblings with histidinemia have shown that the enzymatic defect in this metabolic disease is the absence of… 
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