Literature DB >> 7436493

Hydroxyprolinaemia with normal development.

M J Robinson, I S Menzies, I Sloan.   

Abstract

A 6th case of hydroxyprolinaemia is described. The response to an oral hydroxyproline load failed to demonstrate an abnormal response in a presumed heterozygote. The infant is developing normally at age 36 months and we agree with others that this aminoacidaemia is benign.

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Year:  1980        PMID： 7436493      PMCID： PMC1626926          DOI： 10.1136/adc.55.6.484

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  8 in total

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

Authors:  M L EFRON; E M BIXBY; C V PRYLES
Journal:  N Engl J Med       Date:  1965-06-24       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.  Metabolism of gamma-hydroxyglutamic acid. I. Conversion to alpha-hydroxy-gamma-ketoglutarate by purified glutamic-aspartic transaminase to rat liver.

Authors:  A GOLDSTONE; E ADAMS
Journal:  J Biol Chem       Date:  1962-11       Impact factor: 5.157

4.  Hydroxyprolinemia: an apparently harmless familial metabolic disorder.

Authors:  R Pelkonen; K I Kivirikko
Journal:  N Engl J Med       Date:  1970-08-27       Impact factor: 91.245

5.  Hydroxyprolinemia: a case report.

Authors:  B S Rama Rao; M N Subhash; H S Narayanan
Journal:  Indian Pediatr       Date:  1974-12       Impact factor: 1.411

6.  Collagen polysomes: site of hydroxylation of proline residues.

Authors:  E L Lazarides; L N Lukens; A A Infante
Journal:  J Mol Biol       Date:  1971-06-28       Impact factor: 5.469

7.  Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney.

Authors:  C R Scriver
Journal:  J Clin Invest       Date:  1968-04       Impact factor: 14.808

8.  Catabolism and excretion of free hydroxyproline in infancy.

Authors:  G Morrow; K I Kivirikko; D J Prockop
Journal:  J Clin Endocrinol Metab       Date:  1967-10       Impact factor: 5.958
  8 in total
  3 in total

1.  Metabolism of [13C5]hydroxyproline in vitro and in vivo: implications for primary hyperoxaluria.

Authors:  Juquan Jiang; Lynnette C Johnson; John Knight; Michael F Callahan; Travis J Riedel; Ross P Holmes; W Todd Lowther
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2011-12-29       Impact factor: 4.052

2.  Proline dehydrogenase 2 (PRODH2) is a hydroxyproline dehydrogenase (HYPDH) and molecular target for treating primary hyperoxaluria.

Authors:  Candice B Summitt; Lynnette C Johnson; Thomas J Jönsson; Derek Parsonage; Ross P Holmes; W Todd Lowther
Journal:  Biochem J       Date:  2015-03-01       Impact factor: 3.857

3.  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
  3 in total

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