Hyperornithinaemia with gyrate atrophy of the choroid and retina in two siblings. 1980

D T Hodes, and V G Oberholzer, and A S Mushin, and A Briddon, and B M Laurance

UI MeSH Term Description Entries
D009952 Ornithine An amino acid produced in the urea cycle by the splitting off of urea from arginine. 2,5-Diaminopentanoic Acid,Ornithine Dihydrochloride, (L)-Isomer,Ornithine Hydrochloride, (D)-Isomer,Ornithine Hydrochloride, (DL)-Isomer,Ornithine Hydrochloride, (L)-Isomer,Ornithine Monoacetate, (L)-Isomer,Ornithine Monohydrobromide, (L)-Isomer,Ornithine Monohydrochloride, (D)-Isomer,Ornithine Monohydrochloride, (DL)-Isomer,Ornithine Phosphate (1:1), (L)-Isomer,Ornithine Sulfate (1:1), (L)-Isomer,Ornithine, (D)-Isomer,Ornithine, (DL)-Isomer,Ornithine, (L)-Isomer,2,5 Diaminopentanoic Acid
D012160 Retina The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. Ora Serrata
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002829 Choroid The thin, highly vascular membrane covering most of the posterior of the eye between the RETINA and SCLERA. Choriocapillaris,Haller Layer,Haller's Layer,Sattler Layer,Sattler's Layer,Choroids
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
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
D001284 Atrophy Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. Atrophies

Related Publications

D T Hodes, and V G Oberholzer, and A S Mushin, and A Briddon, and B M Laurance
January 1974, The British journal of ophthalmology,
D T Hodes, and V G Oberholzer, and A S Mushin, and A Briddon, and B M Laurance
July 1999, Annals of clinical biochemistry,
D T Hodes, and V G Oberholzer, and A S Mushin, and A Briddon, and B M Laurance
November 1974, The British journal of ophthalmology,
D T Hodes, and V G Oberholzer, and A S Mushin, and A Briddon, and B M Laurance
January 1994, Eye (London, England),
D T Hodes, and V G Oberholzer, and A S Mushin, and A Briddon, and B M Laurance
December 1999, Journal of inherited metabolic disease,
D T Hodes, and V G Oberholzer, and A S Mushin, and A Briddon, and B M Laurance
April 1982, Lancet (London, England),
D T Hodes, and V G Oberholzer, and A S Mushin, and A Briddon, and B M Laurance
June 2007, Journal of neurology, neurosurgery, and psychiatry,
D T Hodes, and V G Oberholzer, and A S Mushin, and A Briddon, and B M Laurance
May 1999, European journal of clinical investigation,
D T Hodes, and V G Oberholzer, and A S Mushin, and A Briddon, and B M Laurance
April 1977, Nippon Ganka Gakkai zasshi,
D T Hodes, and V G Oberholzer, and A S Mushin, and A Briddon, and B M Laurance
January 1983, Journal of inherited metabolic disease,
Copied contents to your clipboard!