Biomaterial Database

Corneal dystrophy and total adenine phosphoribosyltransferase (APRT) deficiency. 1986

A Neetens, and K J Van Acker, and N Marien

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D010430	Pentosyltransferases	Enzymes of the transferase class that catalyze the transfer of a pentose group from one compound to another.
D011686	Purine-Pyrimidine Metabolism, Inborn Errors	Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.	Purine Pyrimidine Metabolism, Inborn Errors
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D003317	Corneal Dystrophies, Hereditary	Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.	Corneal Dystrophies,Granular Dystrophy, Corneal,Groenouw's Dystrophies,Macular Dystrophy, Corneal,Stromal Dystrophies, Corneal,Corneal Dystrophy,Corneal Dystrophy, Hereditary,Corneal Granular Dystrophies,Corneal Granular Dystrophy,Corneal Macular Dystrophies,Corneal Macular Dystrophy,Corneal Stromal Dystrophies,Corneal Stromal Dystrophy,Dystrophy, Corneal,Dystrophy, Corneal Granular,Dystrophy, Corneal Macular,Dystrophy, Corneal Stromal,Dystrophy, Hereditary Corneal,Groenouw Dystrophies,Groenouws Dystrophies,Hereditary Corneal Dystrophies,Hereditary Corneal Dystrophy,Stromal Dystrophy, Corneal
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000228	Adenine Phosphoribosyltransferase	An enzyme catalyzing the formation of AMP from adenine and phosphoribosylpyrophosphate. It can act as a salvage enzyme for recycling of adenine into nucleic acids. EC 2.4.2.7.	AMP Pyrophosphorylase,Transphosphoribosidase,APRTase,Phosphoribosyltransferase, Adenine,Pyrophosphorylase, AMP