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1

A Delphi consensus approach to monitoring and integrated ca..:

Muschol, Nicole M. ; Burton, Barbara K. ; Ficicioglu, Can...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107974 , 2024

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

2

P486: A global Delphi consensus approach to monitoring and ..:

Ficicioglu, Can ; Muschol, Nicole ; Burton, Barbara...
Genetics in Medicine Open. 2 (2024) - p. 101385 , 2024

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

3

Preliminary results from the ongoing aphenity extension stu..:

Sacharow, Stephanie ; Muntau, Ania C. ; Bratkovic, Drago...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108251 , 2024

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

4

The investigation of the profiles of Lyso-Gb3 and related a..:

Effraimidis, Grigorios ; Auray-Blais, Christiane ; Lavoie, Pamela..
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107817 , 2024

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

5

Efficacy and safety of oral sepiapterin in participants wit..:

Zori, Roberto ; Lah, Melissa ; Offord, Staphanie...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108277 , 2024

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

6

Long-term efficacy of velmanase alfa treatment in patients ..:

Guffon, Nathalie ; Borgwardt, Line ; Tylki-Szymańska, Anna...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107866 , 2024

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

7

FindZebra online search delving into rare disease case repo..:

Liévin, Valentin ; Hansen, Jonas Meinertz ; Lund, Allan...
PLOS Digital Health. 2 (2023) 6 - p. e0000269 , 2023

Link: https://doi.org/10.1371/..

8

High yield on aetiology using a systematic diagnostic appro..:

Nordmann Winther, Thilde ; Nielsen, Alex Yde ; Lund, Allan..
Acta Paediatrica. 112 (2023) 5 - p. 1082-1090 , 2023

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

9

Real-world clinical profiles of patients with alpha-mannosi..:

Muschol, Nicole M. ; Guffon, Nathalie ; Ballabeni, Andrea...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107232 , 2023

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

10

O02: Baseline characteristics of a real-world population wi..:

Muschol, Nicole ; Guffon, Nathalie ; Ballabeni, Andrea...
Genetics in Medicine Open. 1 (2023) 1 - p. 100003 , 2023

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

11

P004: Real-world clinical profiles of patients with alpha-m..:

Muschol, Nicole ; Guffon, Nathalie ; Ballabeni, Andrea...
Genetics in Medicine Open. 1 (2023) 1 - p. 100014 , 2023

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

12

X-linked creatine transporter (SLC6A8) deficiency in female..:

Mejdahl Nielsen, Malene ; Petersen, Esben Thade ; Fenger, Christina Dühring...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107694 , 2023

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

13

Baseline characteristics of a real-world population with al..:

Guffon, Nathalie ; Muschol, Nicole M. ; Ballabeni, Andrea...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107130 , 2023

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

14

Long‐term safety and efficacy of velmanase alfa treatment i..:

Guffon, Nathalie ; Konstantopoulou, Vassiliki ; Hennermann, Julia B....
Journal of Inherited Metabolic Disease. 46 (2023) 4 - p. 705-719 , 2023

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

15

Klio

Beiträge zur alten Geschichte ; Band 71, Heft 2: 1989 Klio ; Band 71, Heft 2

Backhaus, Wilhelm ; Badian, Ernst ; Blázqtuez, José Maria... - Reprint 2021 . , [2022]

Link: https://doi.org/10.1515/..

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