Literature DB >> 2686556

Diagnosis and management of inborn errors of metabolism.

J E Wraith1.   

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Year:  1989        PMID： 2686556      PMCID： PMC1590098          DOI： 10.1136/adc.64.10_spec_no.1410

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


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  18 in total

1.  The anion gap.

Authors:  M S Oh; H J Carroll
Journal:  N Engl J Med       Date:  1977-10-13       Impact factor: 91.245

Review 2.  Inherited peroxisomal disorders involving the nervous system.

Authors:  J B Stephenson
Journal:  Arch Dis Child       Date:  1988-07       Impact factor: 3.791

3.  A simple spot screening test for galactosemia.

Authors:  E Beutler; M C Baluda
Journal:  J Lab Clin Med       Date:  1966-07

4.  Diagnostic importance of an increased serum anion gap.

Authors:  P A Gabow; W D Kaehny; P V Fennessey; S I Goodman; P A Gross; R W Schrier
Journal:  N Engl J Med       Date:  1980-10-09       Impact factor: 91.245

Review 5.  New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.

Authors:  C A Stanley
Journal:  Adv Pediatr       Date:  1987

6.  A comprehensive screening method for detecting organic acidurias and other metabolic diseases in acutely sick infants and children.

Authors:  R A Chalmers; R W Watts; A M Lawson
Journal:  Ann Clin Biochem       Date:  1977-05       Impact factor: 2.057

7.  Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration.

Authors:  U Wendel; J Wieland; H J Bremer; C Bachmann
Journal:  Eur J Pediatr       Date:  1989-01       Impact factor: 3.183

8.  The potentiation of ammonia toxicity by sodium benzoate is prevented by L-carnitine.

Authors:  J E O'Connor; M Costell; S Grisolía
Journal:  Biochem Biophys Res Commun       Date:  1987-06-15       Impact factor: 3.575

9.  Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.

Authors:  M L Batshaw; S Brusilow; L Waber; W Blom; A M Brubakk; B K Burton; H M Cann; D Kerr; P Mamunes; R Matalon; D Myerberg; I A Schafer
Journal:  N Engl J Med       Date:  1982-06-10       Impact factor: 91.245

10.  The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis.

Authors:  B H Robinson; J Taylor; W G Sherwood
Journal:  Pediatr Res       Date:  1980-08       Impact factor: 3.756
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  3 in total

Review 1.  Diagnosis and management of inborn errors of metabolism--an update.

Authors:  J E Wraith
Journal:  Arch Dis Child       Date:  1992-10       Impact factor: 3.791

2.  Parent perspectives on decisions to participate in a phase I hepatocyte transplant trial.

Authors:  Alexandra Dreyzin; Amber E Barnato; Kyle A Soltys; Coreen Farris; Rachel Sada; Kimberly Haberman; Ira J Fox
Journal:  Pediatr Transplant       Date:  2013-11-20

3.  Metabolic Impairment in Coronary Artery Disease: Elevated Serum Acylcarnitines Under the Spotlights.

Authors:  Joséphine Gander; Justin Carrard; Hector Gallart-Ayala; Rébecca Borreggine; Tony Teav; Denis Infanger; Flora Colledge; Lukas Streese; Jonathan Wagner; Christopher Klenk; Gilles Nève; Raphael Knaier; Henner Hanssen; Arno Schmidt-Trucksäss; Julijana Ivanisevic
Journal:  Front Cardiovasc Med       Date:  2021-12-16
  3 in total

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