E-LIB Suche - Ergebnisse für: Mochel, Fanny

1

What can pediatricians learn from adult inherited metabolic..:

Mochel, Fanny
Journal of Inherited Metabolic Disease. , 2024

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

2

Inventory of current practices regarding hematopoietic stem..:

Schoenmakers, Daphne H. ; Mochel, Fanny ; Adang, Laura A....
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

3

Genotype-specific spinal cord damage in spinocerebellar ata..:

Rezende, Thiago Junqueira Ribeiro ; Adanyaguh, Isaac ; Barsottini, Orlando G P...
Journal of Neurology, Neurosurgery & Psychiatry. , 2024

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

4

Clinical and genetic keys to cerebellar ataxia due to FGF14..:

Méreaux, Jean-Loup ; Davoine, Claire-Sophie ; Pellerin, David...
eBioMedicine. 99 (2024) - p. 104931 , 2024

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

5

CYP2U1: An emerging treatable neurometabolic disease with c..:

Wong, Sheila Suet-Na ; Yuen, Liz Yuet-Ping ; Kan, Elaine...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101023 , 2024

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

6

Newborn screening in metachromatic leukodystrophy – Europea..:

Laugwitz, Lucia ; Schoenmakers, Daphne H. ; Adang, Laura A....
European Journal of Paediatric Neurology. 49 (2024) - p. 141-154 , 2024

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

7

Metabolic Treatments of Cerebellar Ataxia:

, In: Contemporary Clinical Neuroscience; Trials for Cerebellar Ataxias,

Mochel, Fanny - p. 629-648 , 2023

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

8

Expansion et raffinement du spectre clinique de l'acidurie ..:

Thomas, Quentin ; Chiara, Benzoni ; Salsano, Ettore...
Revue Neurologique. 179 (2023) - p. S38 , 2023

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

9

Novel brain MRI clues to diagnose adult polyglucosan body d..:

Mochel, Fanny
Neuromuscular Disorders. 33 (2023) 8 - p. 697-698 , 2023

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

10

Prospective Multicenter Validation of a Simple Blood Test f..:

Mochel, Fanny ; Gras, Domitille ; Luton, Marie-Pierre...
Neurology. 100 (2023) 23 - p. , 2023

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

11

Diagnosis and management of hepatic encephalopathy: The Fre..:

Thabut, Dominique ; Bouzbib, Charlotte ; Meunier, Lucy...
Liver International. 43 (2023) 4 - p. 750-762 , 2023

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

12

Next-Generation Sequencing Identifies Novel PMPCA Variants ..:

Charif, Majida ; Chevrollier, Arnaud ; Gueguen, Naïg...
Genes. 13 (2022) 7 - p. 1202 , 2022

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

13

Disorders of Complex Lipids:

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

Vaz, Frédéric M. ; Wortmann, Saskia B. ; Mochel, Fanny - p. 981-1025 , 2022

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

14

A neuro-metabolic account of why daylong cognitive work alt..:

Wiehler, Antonius ; Branzoli, Francesca ; Adanyeguh, Isaac..
Current Biology. 32 (2022) 16 - p. 3564-3575.e5 , 2022

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

15

Diagnostic Procedures:

, In: Inborn Metabolic Diseases,

Touati, Guy ; Mochel, Fanny ; Artuch, Rafael - p. 147-166 , 2022

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