Literature DB >> 23105399

Hyper prolinuria and hyper-hydroxy prolinuria in children with mental retardation.

M Swarna1, A Jyothy, P Usha Rani, P P Reddy.   

Abstract

Three thousand cases with mental retardation referred from different hospitals were screened for aminoacid disorders. Among them one case of hyperprolinuria and another case of hyperprolinuria with hyper hydroxyprolinuria were detected. These are the first cases to be reported from the state of Andhra Pradesh.

Entities:  

Keywords:  Hyperhydroxyprolinuria; Hyperprolinuria; Mental retardation

Year:  2003        PMID： 23105399      PMCID： PMC3453879          DOI： 10.1007/BF02867374

Source DB:  PubMed          Journal:  Indian J Clin Biochem        ISSN： 0970-1915


  7 in total

1.  FAMILIAL HYPERPROLINEMIA. REPORT OF A SECOND CASE, ASSOCIATED WITH CONGENITAL RENAL MALFORMATIONS, HEREDITARY HEMATURIA AND MILD MENTAL RETARDATION, WITH DEMONSTRATION OF AN ENZYME DEFECT.

Authors:  M L EFRON
Journal:  N Engl J Med       Date:  1965-06-17       Impact factor: 91.245

2.  New renal tubular amino-acid transport system and a new hereditary disorder of amino-acid metabolism.

Authors:  C R SCRIVER; I A SCHAFER; M L EFRON
Journal:  Nature       Date:  1961-11-18       Impact factor: 49.962

3.  Type I hyperprolinemia in a family suffering from aniridia and severe dystrophia of ocular tissues.

Authors:  G Fusco; S Carlomagno; A Romano; E Rinaldi; G Cedrola; L Cianciaruso; A Curto; S Rosolia; G Auricchio
Journal:  Ophthalmologica       Date:  1976       Impact factor: 3.250

4.  Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper-oh-prolinuria.

Authors:  T Rokkones; A C Loken
Journal:  Acta Paediatr Scand       Date:  1968-05

5.  Type I hyperprolinemia.

Authors:  R Christopher; P Kumar
Journal:  Indian J Pediatr       Date:  2000-07       Impact factor: 1.967

6.  Clinical, biochemical and enzymatic studies in type I hyperprolinemia associated with chromosomal abnormality.

Authors:  K Oyanagi; A Tsuchiyama; Y Itakura; Y Tamura; T Nakao; S Fujita; H Shiono
Journal:  Tohoku J Exp Med       Date:  1987-04       Impact factor: 1.848

7.  [A case of type I hyperprolinemia associated with photogenic epilepsy].

Authors:  Y Ishikawa; K Kameda; M Okabe; T Imai; M Nagaoka; R Minami
Journal:  No To Hattatsu       Date:  1991-01
  7 in total

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