Literature DB >> 9686828

Therapeutic trial of arginine restriction in creatine deficiency syndrome.

A Schulze, E Mayatepek, P Bachert, B Marescau, P P De Deyn, D Rating.   

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Year:  1998        PMID： 9686828     DOI： 10.1007/s004310050890

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  8 in total

Review 1.  Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers.

Authors:  Olivier Braissant
Journal:  J Inherit Metab Dis       Date:  2012-01-18       Impact factor: 4.982

2.  Gene therapy for guanidinoacetate methyltransferase deficiency restores cerebral and myocardial creatine while resolving behavioral abnormalities.

Authors:  Suhail Khoja; Jenna Lambert; Matthew Nitzahn; Adam Eliav; YuChen Zhang; Mikayla Tamboline; Colleen T Le; Eram Nasser; Yunfeng Li; Puja Patel; Irina Zhuravka; Lindsay M Lueptow; Ilona Tkachyova; Shili Xu; Itzhak Nissim; Andreas Schulze; Gerald S Lipshutz
Journal:  Mol Ther Methods Clin Dev       Date:  2022-03-28       Impact factor: 5.849

3.  Non-derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots by Tandem Mass Spectrometry.

Authors:  Carter K Asef; Kameron M Khaksarfard; Víctor R De Jesús
Journal:  Int J Neonatal Screen       Date:  2016-11-24

Review 4.  Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism.

Authors:  C Stromberger; O A Bodamer; S Stöckler-Ipsiroglu
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

5.  Creatine synthesis: hepatic metabolism of guanidinoacetate and creatine in the rat in vitro and in vivo.

Authors:  Robin P da Silva; Itzhak Nissim; Margaret E Brosnan; John T Brosnan
Journal:  Am J Physiol Endocrinol Metab       Date:  2008-11-18       Impact factor: 4.310

Review 6.  AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.

Authors:  O Braissant; H Henry
Journal:  J Inherit Metab Dis       Date:  2008-04-04       Impact factor: 4.982

7.  Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1.

Authors:  Olivier Braissant; Hugues Henry; Anne-Marie Villard; Oliver Speer; Theo Wallimann; Claude Bachmann
Journal:  BMC Dev Biol       Date:  2005-05-26       Impact factor: 1.978

Review 8.  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
  8 in total

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