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Sylvia Stockler‐Ipsiroglu
51
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1
Claudin-11 in health and disease: implications for myelin d..:
Sophia C. Gjervan
;
Oguz K. Ozgoren
;
Alexander Gow
..
https://www.frontiersin.org/articles/10.3389/fncel.2023.1344090/full. , 2024
Link:
https://doi.org/10.3389/..
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2
Assessing the quality and value of metabolic chart data for..:
Ryan Iverson
;
Monica Taljaard
;
Michael T. Geraghty
...
https://doi.org/10.1186/s12887-023-04393-4. , 2024
Link:
https://doi.org/10.1186/..
?
3
Additional file 1 of Assessing the quality and value of met..:
Ryan Iverson
;
Monica Taljaard
;
Michael T. Geraghty
...
doi:10.6084/m9.figshare.24993673.v1. , 2024
Link:
https://doi.org/10.6084/..
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4
Treatable inherited metabolic disorders causing intellectua..:
Eva M. M. Hoytema van Konijnenburg
;
Saskia B. Wortmann
;
Marina J. Koelewijn
...
https://doi.org/10.1186/s13023-021-01727-2. , 2021
Link:
https://doi.org/10.1186/..
?
5
Idiopathic splenomegaly in childhood and the spectrum of RA..:
Geraldine Blanchard-Rohner
;
Robert J. Ragotte
;
Anne K. Junker
...
https://doi.org/10.1186/s12887-021-02508-3. , 2021
Link:
https://doi.org/10.1186/..
?
6
Dietary management and growth outcomes in children with pro..:
Haneen Saleemani
;
Csilla Egri
;
Gabriella Horvath
..
https://doi.org/10.1002/jmd2.12234. , 2021
Link:
https://doi.org/10.1002/..
?
7
Morquio‐like dysostosis multiplex presenting with neuronopa..:
Sylvia Stockler‐Ipsiroglu
;
Nahid Yazdanpanah
;
Mojgan Yazdanpanah
...
https://doi.org/10.1002/jmd2.12211. , 2021
Link:
https://doi.org/10.1002/..
?
8
Morquio B Disease. Disease Characteristics and Treatment Op..:
Nataliya Yuskiv
;
Katsumi Higaki
;
Sylvia Stockler-Ipsiroglu
https://www.mdpi.com/1422-0067/21/23/9121. , 2020
Link:
https://doi.org/10.3390/..
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9
Morquio B Disease. Disease Characteristics and Treatment Op..:
Nataliya Yuskiv
;
Katsumi Higaki
;
Sylvia Stockler-Ipsiroglu
Molecular Pathology, Diagnostics, and Therapeutics. , 2020
Link:
https://doi.org/10.3390/..
?
10
Evaluation of the quality of clinical data collection for a..:
Kylie Tingley
;
Monica Lamoureux
;
Michael Pugliese
...
http://link.springer.com/article/10.1186/s13023-020-01358-z. , 2020
Link:
https://doi.org/10.1186/..
?
11
Morquio‐B disease: Clinical and genetic characteristics of ..:
Iman S. Abumansour
;
Nataliya Yuskiv
;
Eduard Paschke
.
https://doi.org/10.1002/jmd2.12065. , 2020
Link:
https://doi.org/10.1002/..
?
12
Congenital lactic acidosis, cerebral cysts and pulmonary hy..:
Delia Apatean
;
Bojana Rakic
;
Catherine Brunel-Guitton
...
http://www.sciencedirect.com/science/article/pii/S2214426919300576. , 2019
Link:
https://doi.org/10.1016/..
?
13
Congenital lactic acidosis, cerebral cysts and pulmonary hy..:
Delia Apatean
;
Bojana Rakic
;
Catherine Brunel-Guitton
...
http://www.sciencedirect.com/science/article/pii/S2214426918300909. , 2019
Link:
https://doi.org/10.1016/..
?
14
Using a meta-narrative literature review and focus groups w..:
Kylie Tingley
;
Doug Coyle
;
Ian D. Graham
...
http://link.springer.com/article/10.1186/s13023-018-0851-1. , 2018
Link:
https://doi.org/10.1186/..
?
15
Morquio B patient/caregiver survey: First insight into the ..:
Maria Bleier
;
Nataliya Yuskiv
;
Tina Priest
..
http://www.sciencedirect.com/science/article/pii/S2214426918300429. , 2018
Link:
https://doi.org/10.1016/..
1-15