Literature DB >> 14299138

HYDROXYPROLINEMIA. II. A RARE METABOLIC DISEASE DUE TO A DEFICIENCY OF THE ENZYME "HYDROXYPROLINE OXIDASE".

M L EFRON, E M BIXBY, C V PRYLES.   

Abstract

Entities:  

Keywords:  ADOLESCENCE; AMINO ACID METABOLISM, INBORN ERRORS; AMINOACID OXIDOREDUCTASES; BLOOD; BLOOD CHEMICAL ANALYSIS; CEREBROSPINAL FLUID; CHILD BEHAVIOR DISORDERS; CONSANGUINITY; ENZYME TESTS; GENETICS, HUMAN; HYDROXYPROLINE; MENTAL RETARDATION; TRANQUILIZING AGENTS; URINE

Mesh：

Substances：

Year:  1965        PMID： 14299138     DOI： 10.1056/NEJM196506242722501

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


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  19 in total

1.  Metabolism of (13)C5-hydroxyproline in mouse models of Primary Hyperoxaluria and its inhibition by RNAi therapeutics targeting liver glycolate oxidase and hydroxyproline dehydrogenase.

Authors:  Xingsheng Li; John Knight; Sonia Fargue; Brianna Buchalski; Zhengrong Guan; Edward W Inscho; Abigail Liebow; Kevin Fitzgerald; William Querbes; W Todd Lowther; Ross P Holmes
Journal:  Biochim Biophys Acta       Date:  2015-12-02

Review 2.  The metabolism of hydroxyproline.

Authors:  E Adams
Journal:  Mol Cell Biochem       Date:  1973-12-15       Impact factor: 3.396

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

Review 4.  Lessons from inborn errors of metabolism.

Authors:  M D Milne
Journal:  Proc R Soc Med       Date:  1966-11

5.  [The behavior of the "collagen-like protein" in serum of patients with seleroderma before and following treatment with gestagens].

Authors:  H Holzmann; G W Korting; B Morsches; A Schlaudecker
Journal:  Arch Klin Exp Dermatol       Date:  1967

6.  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

Review 7.  RNA interference in the treatment of renal stone disease: Current status and future potentials.

Authors:  Kyle D Wood; Ross P Holmes; John Knight
Journal:  Int J Surg       Date:  2016-11-12       Impact factor: 6.071

8.  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

9.  3-Hydroxyproline content of normal urine.

Authors:  E Adams; S Ramaswamy; M Lamon
Journal:  J Clin Invest       Date:  1978-06       Impact factor: 14.808

10.  Genetic cause and prevalence of hydroxyprolinemia.

Authors:  Christian Staufner; Tobias B Haack; Patrik Feyh; Gwendolyn Gramer; Deepthi Ediga Raga; Caterina Terrile; Sven Sauer; Jürgen G Okun; Junmin Fang-Hoffmann; Ertan Mayatepek; Holger Prokisch; Georg F Hoffmann; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2016-05-02       Impact factor: 4.982
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