Skip to results
Modify your search
NARROW
1-7 of 7
Authors: Sylvia Stockler
Journal Article
Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability Get access
Paediatrics & Child Health, Volume 26, Issue 6, October 2021, Pages 344–348, https://doi.org/10.1093/pch/pxaa112
Published: 19 December 2020
Journal Article
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
in
Brain
Brain, Volume 144, Issue 2, February 2021, Pages 411–419, https://doi.org/10.1093/brain/awaa410
Published: 12 December 2020
Journal Article
Development of Minimally Invasive 13C-Glucose Breath Test to Examine Different Dietary Therapies in Patients with Glycogen Storage Disorders
Current Developments in Nutrition, Volume 4, Issue Supplement_2, June 2020, Page 1149, https://doi.org/10.1093/cdn/nzaa055_034
Published: 29 May 2020
Journal Article
Determining Ideal Balance Among Branched-Chain Amino Acids (BCAA) as a Proof of Concept Study in Healthy Children
Current Developments in Nutrition, Volume 4, Issue Supplement_2, June 2020, Page 1068, https://doi.org/10.1093/cdn/nzaa054_140
Published: 29 May 2020
Journal Article
The Indicator Amino Acid Oxidation Method with the Use of L-[1-13C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with Phenylketonuria Get access
The Journal of Nutrition, Volume 147, Issue 2, February 2017, Pages 211–217, https://doi.org/10.3945/jn.116.240218
Published: 04 January 2017
Journal Article
Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia Get access
Paediatrics & Child Health, Volume 19, Issue 9, November 2014, Pages 469–471, https://doi.org/10.1093/pch/19.9.469
Published: 01 November 2014
Chapter
Cerebral Creatine Deficiency Disorders Get access
Peter W. Schutz and Sylvia Stockler
Published: 01 August 2016
