E-LIB Suche - Ergebnisse für: Stockler‐Ipsiroglu, Sylvia

1

Carnitine deficiency, hearing loss and hydrochlorothiazide‐..:

Mattman, Andre ; Masoudi, Raha ; Stockler‐Ipsiroglu, Sylvia...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3139-3141 , 2022

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

2

Dietary management and growth outcomes in children with pro..:

Saleemani, Haneen ; Egri, Csilla ; Horvath, Gabriella..
JIMD Reports. 61 (2021) 1 - p. 67-75 , 2021

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

3

Morquio‐like dysostosis multiplex presenting with neuronopa..:

Stockler‐Ipsiroglu, Sylvia ; Yazdanpanah, Nahid ; Yazdanpanah, Mojgan...
JIMD Reports. 60 (2021) 1 - p. 23-31 , 2021

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

4

Developments in evidence creation for treatments of inborn ..:

Stockler‐Ipsiroglu, Sylvia ; Potter, Beth K. ; Yuskiv, Nataliya...
Journal of Inherited Metabolic Disease. 44 (2020) 1 - p. 88-98 , 2020

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

5

Impact of enteral arginine supplementation on lysine metabo..:

Schmidt, Zoe ; Murthy, Gayathri ; Ennis, Madeleine..
Journal of Inherited Metabolic Disease. 43 (2020) 5 - p. 952-959 , 2020

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

6

Morquio‐B disease: Clinical and genetic characteristics of ..:

Abumansour, Iman S. ; Yuskiv, Nataliya ; Paschke, Eduard.
JIMD Reports. 51 (2019) 1 - p. 30-44 , 2019

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

7

Eighteen‐year follow‐up of a patient with cobalamin F disea..:

Alfadhel, Majid ; Lillquist, Yolanda P. ; Davis, Cynthia..
American Journal of Medical Genetics Part A. 155 (2011) 10 - p. 2571-2577 , 2011

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

8

Folinic acid–responsive seizures are identical to pyridoxin..:

Gallagher, Renata C. ; Van Hove, Johan L. K. ; Scharer, Gunter...
Annals of Neurology. 65 (2009) 5 - p. 550-556 , 2009

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

9

Creatine metabolism in combined methylmalonic aciduria and ..:

Bodamer, Olaf A. ; Sahoo, Trilochan ; Beaudet, Arthur L....
Annals of Neurology. 57 (2005) 4 - p. 557-560 , 2005

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

10

De novo pathogenic DNM1L variant in a patient diagnosed wit..:

Tarailo‐Graovac, Maja ; Zahir, Farah R. ; Zivkovic, Irena...
Molecular Genetics & Genomic Medicine. 7 (2019) 10 - p. , 2019

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

11

Claudin-11 in health and disease: implications for myelin d..:

Gjervan, Sophia C. ; Ozgoren, Oguz K. ; Gow, Alexander..
Frontiers in Cellular Neuroscience. 17 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

12

Real-world diagnostic outcomes and cost-effectiveness of ge..:

Regier, Dean A. ; Loewen, Rosalie ; Chan, Brandon...
Genetics in Medicine. 26 (2024) 4 - p. 101069 , 2024

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

13

Disorders of Creatine Metabolism:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,

Stöckler-Ipsiroglu, Sylvia ; Braissant, Olivier ; Schulze, Andreas - p. 235-249 , 2022

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

14

Association Between Lysine Reduction Therapies and Cognitiv..:

Coughlin, Curtis R. ; Tseng, Laura A. ; Bok, Levinus A....
Neurology. 99 (2022) 23 - p. , 2022

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

15

Disorders of Creatine Metabolism:

, In: Inborn Metabolic Diseases,

Stöckler-Ipsiroglu, Sylvia ; Mercimek-Andrews, Saadet ; Salomons, Gajja S. - p. 239-245 , 2022

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