BIOMAT Database Logo BIOMAT Database Logo

[A case of combined lysinuric protein intolerance and hypoactivity of argininosuccinate synthetase (citrullinemia)]. 1988

K Shioya, and Y Yamamura, and T Kurihara, and S Matsukura

UI MeSH Term Description Entries
D008239 Lysine An essential amino acid. It is often added to animal feed. Enisyl,L-Lysine,Lysine Acetate,Lysine Hydrochloride,Acetate, Lysine,L Lysine
D002956 Citrulline
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000592 Amino Acid Metabolism, Inborn Errors Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy
D000596 Amino Acids Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. Amino Acid,Acid, Amino,Acids, Amino
D000641 Ammonia A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. Note that the aqueous form of ammonia is referred to as AMMONIUM HYDROXIDE.
D000643 Ammonium Chloride An acidifying agent that has expectorant and diuretic effects. Also used in etching and batteries and as a flux in electroplating. Sal Ammoniac,Ammoniac, Sal,Chloride, Ammonium
D015499 Renal Tubular Transport, Inborn Errors Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES. Kidney Tubular Transport, Inborn Errors,Kidney Tubular Transport, Inborn Error,Renal Tubular Transport Errors,Renal Tubular Transport, Inborn Error

Related Publications

K Shioya, and Y Yamamura, and T Kurihara, and S Matsukura
Lysinuric protein intolerance presenting deficiency of argininosuccinate synthetase.
January 1992, Internal medicine (Tokyo, Japan),
K Shioya, and Y Yamamura, and T Kurihara, and S Matsukura
The human argininosuccinate synthetase locus and citrullinemia.
January 1986, Advances in human genetics,
K Shioya, and Y Yamamura, and T Kurihara, and S Matsukura
A case of citrullinemia with abnormal messenger RNA for argininosuccinate synthetase.
October 1991, Acta paediatrica Japonica : Overseas edition,
K Shioya, and Y Yamamura, and T Kurihara, and S Matsukura
Additional mutations in argininosuccinate synthetase causing citrullinemia.
February 1991, Molecular biology & medicine,
K Shioya, and Y Yamamura, and T Kurihara, and S Matsukura
Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia.
February 1981, Clinica chimica acta; international journal of clinical chemistry,
K Shioya, and Y Yamamura, and T Kurihara, and S Matsukura
Messenger RNA coding for argininosuccinate synthetase in citrullinemia.
May 1986, American journal of human genetics,
K Shioya, and Y Yamamura, and T Kurihara, and S Matsukura
An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia.
July 1999, Internal medicine (Tokyo, Japan),
K Shioya, and Y Yamamura, and T Kurihara, and S Matsukura
[Lysinuric protein intolerance].
November 1983, Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde,
K Shioya, and Y Yamamura, and T Kurihara, and S Matsukura
Lysinuric protein intolerance.
January 1974, Birth defects original article series,
K Shioya, and Y Yamamura, and T Kurihara, and S Matsukura
Lysinuric protein intolerance.
September 1980, Lancet (London, England),
Copied contents to your clipboard!