ヒドロキシプロリン血症
English Journal
- Amino acid disorders in mental retardation: a two-decade study from Andhra Pradesh.
- Swarna M, Jyothy A, Usha Rani P, Reddy PP.SourceInstitute of Genetics, Hospital for Genetic Diseases, Begumpet, Hyderabad 500 016, A.P., India.
- Biochemical genetics." abstractLink="yes" alsec="jour" alterm="Biochem Genet.2004 Apr;42(3-4):85-98.
- A screening program was carried out for amino acid disorders in children with mental handicaps from the state of Andhra Pradesh (India) during the last two decades. Forty-one (0.9%) cases were detected with amino acid disorders among 4500 children surveyed. We reported amino acid disorders of rare o
- PMID 15168722
- Endo F.SourceDepartment of Pediatrics, Kumamoto University School of Medicine.
- Ry?ikibetsu sh?k?gun shir?zu." abstractLink="yes" alsec="jour" alterm="Ryoikibetsu Shokogun Shirizu.1998;(18 Pt 1):158-9.
- PMID 9590015
Related Links
- Medical Dictionary hydroxyprolinemia hy·drox·y·pro·li·ne·mi·a (hī-drŏk'sē-prō'lĭ-nē'mē-ə) n. An inherited metabolic disorder characterized by high hydroxyproline concentrations in plasma and urine and severe mental retardation. The ...
- hydroxyprolinemia /hy·droxy·pro·lin·e·mia/ (-pro″lĭ-ne´me-ah) 1. excess of hydroxyproline in the blood. 2. a disorder of amino acid metabolism characterized by an excess of free hydroxyproline in the plasma and urine, due to a defect ...
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