Literature DB >> 16763888

The use of amino acid supplements in inherited metabolic disease.

John H Walter1, Anita MacDonald.   

Abstract

Amino acid supplements are recognized to be essential for the management of a number of inherited metabolic disorders but their use in some other conditions is more controversial.

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Year:  2006        PMID： 16763888     DOI： 10.1007/s10545-006-0357-1

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  5 in total

1.  L-arginine improves the symptoms of strokelike episodes in MELAS.

Authors:  Y Koga; Y Akita; J Nishioka; S Yatsuga; N Povalko; Y Tanabe; S Fujimoto; Toyojiro Matsuishi
Journal:  Neurology       Date:  2005-02-22       Impact factor: 9.910

2.  Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.

Authors:  Stefan Kölker; Sven F Garbade; Cheryl R Greenberg; James V Leonard; Jean-Marie Saudubray; Antonia Ribes; H Serap Kalkanoglu; Allan M Lund; Begoña Merinero; Moacir Wajner; Mónica Troncoso; Monique Williams; John H Walter; Jaume Campistol; Milagros Martí-Herrero; Melissa Caswill; Alberto B Burlina; Florian Lagler; Esther M Maier; Bernd Schwahn; Aysegul Tokatli; Ali Dursun; Turgay Coskun; Ronald A Chalmers; David M Koeller; Johannes Zschocke; Ernst Christensen; Peter Burgard; Georg F Hoffmann
Journal:  Pediatr Res       Date:  2006-04-26       Impact factor: 3.756

3.  Efficacy of tryptophan for the treatment of nonketotic hyperglycinemia: a new therapeutic approach for modulating the N-methyl-D-aspartate receptor.

Authors:  S Matsuo; F Inoue; Y Takeuchi; H Yoshioka; A Kinugasa; T Sawada
Journal:  Pediatrics       Date:  1995-01       Impact factor: 7.124

4.  Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.

Authors:  T J de Koning; M Duran; L Dorland; R Gooskens; E Van Schaftingen; J Jaeken; N Blau; R Berger; B T Poll-The
Journal:  Ann Neurol       Date:  1998-08       Impact factor: 10.422

5.  Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment.

Authors:  Richard Koch; Kathryn D Moseley; Shoji Yano; Marvin Nelson; Rex A Moats
Journal:  Mol Genet Metab       Date:  2003-06       Impact factor: 4.797
  5 in total
  5 in total

1.  The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?

Authors:  Anne Daly; S Evans; A Gerrard; S Santra; S Vijay; A MacDonald
Journal:  JIMD Rep       Date:  2015-10-29

2.  Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?

Authors:  Tamaris Zwickler; Gisela Haege; Alina Riderer; Friederike Hörster; Georg F Hoffmann; Peter Burgard; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2012-01-17       Impact factor: 4.982

3.  Response to Cunningham et al.

Authors:  Irini Manoli; Jennifer G Myles; Jennifer L Sloan; Oleg A Shchelochkov; Charles P Venditti
Journal:  Genet Med       Date:  2016-03-10       Impact factor: 8.822

4.  A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.

Authors:  Irini Manoli; Jennifer G Myles; Jennifer L Sloan; Oleg A Shchelochkov; Charles P Venditti
Journal:  Genet Med       Date:  2015-08-13       Impact factor: 8.822

Review 5.  Single amino acid supplementation in aminoacidopathies: a systematic review.

Authors:  Danique van Vliet; Terry G J Derks; Margreet van Rijn; Martijn J de Groot; Anita MacDonald; M Rebecca Heiner-Fokkema; Francjan J van Spronsen
Journal:  Orphanet J Rare Dis       Date:  2014-01-13       Impact factor: 4.123
  5 in total

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