E-LIB Suche - Ergebnisse für: Greenberg, Cheryl R

1

Family‐centred care interventions for children with chronic..:

Chow, Andrea J. ; Saad, Ammar ; Al‐Baldawi, Zobaida...
Health Expectations. 27 (2024) 1 - p. , 2024

Link: https://doi.org/10.1111/..

2

Assessing the quality and value of metabolic chart data for..:

Iverson, Ryan ; Taljaard, Monica ; Geraghty, Michael T....
BMC Pediatrics. 24 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

Development of a core outcome set for mucopolysaccharidoses..:

Howie, Alison H. ; Wyatt, Alexandra ; Inbar-Feigenberg, Michal...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107154 , 2023

Link: https://doi.org/10.1016/..

4

Families' healthcare experiences for children with inherite..:

Chow, Andrea J ; Iverson, Ryan ; Lamoureux, Monica...
BMJ Open. 12 (2022) 2 - p. e055664 , 2022

Link: https://doi.org/10.1136/..

5

Evaluation of the quality of clinical data collection for a..:

on behalf of the Canadian Inherited Metabolic Diseases Research Network ; Tingley, Kylie ; Lamoureux, Monica...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

6

Outcomes in pediatric studies of medium-chain acyl-coA dehy..:

Canadian Inherited Metabolic Diseases Research Network ; Pugliese, Michael ; Tingley, Kylie...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

7

Reflex Seizures in a Patient with CDKL5 Deficiency Disorder:

Peikes, Tyler ; Hartley, Jessica N. ; Mhanni, Aizeddin A...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46 (2019) 4 - p. 482-485 , 2019

Link: https://doi.org/10.1017/..

8

Development of a Population-Based Newborn Screening Method ..:

Thompson, J. Robert ; Greenberg, Cheryl R. ; Dick, Andrew...
International Journal of Neonatal Screening. 4 (2018) 2 - p. 19 , 2018

Link: https://doi.org/10.3390/..

9

Establishing core outcome sets for phenylketonuria (PKU) an..:

In collaboration with the Canadian Inherited Metabolic Diseases Research Network ; Potter, Beth K. ; Hutton, Brian...
Trials. 18 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

10

Proposed recommendations for diagnosing and managing indivi..:

Boy, Nikolas ; Mühlhausen, Chris ; Maier, Esther M....
Journal of Inherited Metabolic Disease. 40 (2016) 1 - p. 75-101 , 2016

Link: https://doi.org/10.1007/..

11

Efficacy and safety of deflazacort vs prednisone and placeb..:

Griggs, Robert C. ; Miller, J. Phillip ; Greenberg, Cheryl R....
Neurology. 87 (2016) 20 - p. 2123-2131 , 2016

Link: https://doi.org/10.1212/..

12

Development of a diagnostic DNA chip to screen for 30 autos..:

Triggs‐Raine, Barbara ; Dyck, Tamara ; Boycott, Kym M....
Molecular Genetics & Genomic Medicine. 4 (2016) 3 - p. 312-321 , 2016

Link: https://doi.org/10.1002/..

13

A case of severe Menkes disease: Importance of laboratory t..:

Stevic, Ivan ; Szelemej, Paul ; Hartley, Jessica...
Clinical Biochemistry. 48 (2015) 15 - p. 1018-1019 , 2015

Link: https://doi.org/10.1016/..

14

Unravelling the complex MRI pattern in glutaric aciduria ty..:

Garbade, Sven F. ; Greenberg, Cheryl R. ; Demirkol, Mübeccel...
Journal of Inherited Metabolic Disease. 37 (2014) 5 - p. 763-773 , 2014

Link: https://doi.org/10.1007/..

15

A novel mutation inKIAA0196: identification of a gene invol..:

Elliott, Alison M ; Simard, Louise R ; Coghlan, Gail...
Journal of Medical Genetics. 50 (2013) 12 - p. 819-822 , 2013

Link: https://doi.org/10.1136/..