Literature DB >> 14290545

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

M L EFRON.   

Abstract

Entities:  

Keywords:  ABNORMALITIES; AMINO ACID METABOLISM, INBORN ERRORS; AMINOACID OXIDOREDUCTASES; BLOOD; CEREBROSPINAL FLUID; CHILD; ENZYME TESTS; GENETICS, HUMAN; HEMATURIA; KIDNEY DISEASES; MENTAL RETARDATION; PROLINE; URINE

Mesh：

Substances：

Year:  1965        PMID： 14290545     DOI： 10.1056/NEJM196506172722401

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  26 in total

1.  Asymptomatic type II hyperprolinaemia associated with hyperglycinaemia in three sibs.

Authors:  L Pavone; F Mollica; H L Levy
Journal:  Arch Dis Child       Date:  1975-08       Impact factor: 3.791

2.  Animal model for hyperprolinaemia: deficiency of mouse proline oxidase activity.

Authors:  R L Blake
Journal:  Biochem J       Date:  1972-10       Impact factor: 3.857

3.  [Free amino acids in the blood serum of patients with endemic (balkan) nephropathy].

Authors:  D Dotchev; H Hungerland; N Liappis
Journal:  Klin Wochenschr       Date:  1972-06-15

4.  Low proline diet in type I hyperprolinaemia.

Authors:  J T Harries; A T Piesowicz; J W Seakins; D E Francis; O H Wolff
Journal:  Arch Dis Child       Date:  1971-02       Impact factor: 3.791

5.  Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome.

Authors:  Catherine L Clelland; Laura L Read; Amanda N Baraldi; Corinne P Bart; Carrie A Pappas; Laura J Panek; Robert H Nadrich; James D Clelland
Journal:  Schizophr Res       Date:  2011-06-08       Impact factor: 4.939

6.  Urinary screening tests in the prevention of mental deficiency.

Authors:  T L Perry; S Hansen; L MacDougall
Journal:  Can Med Assoc J       Date:  1966-07-16       Impact factor: 8.262

7.  Functional consequences of PRODH missense mutations.

Authors:  Hans-Ulrich Bender; Shlomo Almashanu; Gary Steel; Chien-An Hu; Wei-Wen Lin; Alecia Willis; Ann Pulver; David Valle
Journal:  Am J Hum Genet       Date:  2005-01-20       Impact factor: 11.025

8.  Type I hyperprolinemia.

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

9.  A conserved active site tyrosine residue of proline dehydrogenase helps enforce the preference for proline over hydroxyproline as the substrate.

Authors:  Elizabeth L Ostrander; John D Larson; Jonathan P Schuermann; John J Tanner
Journal:  Biochemistry       Date:  2009-02-10       Impact factor: 3.162

10.  Altered polyamine metabolism in the PRO/Re strain of inbred mice.

Authors:  C A Manen; R L Blake; D H Russell
Journal:  Biochem J       Date:  1976-09-15       Impact factor: 3.857
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