E-LIB Suche - Ergebnisse für: Verrips, A. (Aad)

1

Chenodeoxycholic acid (CDCA) treatment during pregnancy in ..:

Zaccai, Tzipora C. Falik ; Hassin-Baer, Sharon ; Kfir, Nehama Cohen...
Genetics in Medicine. 26 (2024) 5 - p. 101086 , 2024

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

2

Characterization of Postprandial Bile Acid Profiles and Glu..:

Majait, Soumia ; Meessen, Emma C. E. ; Vaz, Frederic Maxime...
Nutrients. 15 (2023) 21 - p. 4625 , 2023

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

3

Cerebrotendinous Xanthomatosis:

, In: Essentials of Cerebellum and Cerebellar Disorders,

Hendriks, Evelien ; Stelten, Bianca M. L. ; Verrips, Aad - p. 649-654 , 2023

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

4

Dilated fixed pupils and respiratory failure: a rare clinic..:

ten Brinck, Michelle FM ; Verheijen, Inge WH ; van de Wardt, Jaron...
BMJ Neurology Open. 5 (2023) 2 - p. e000426 , 2023

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

5

Newborn screening for Cerebrotendinous Xanthomatosis: A ret..:

Vaz, Frédéric M. ; Jamal, Youssra ; Barto, Rob...
Clinica Chimica Acta. 539 (2023) - p. 170-174 , 2023

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

6

Child Neurology: Maternal Transmission of Congenital Myoton..:

Tieleman, Alide A. ; Damen, Manon J. ; Verrips, Aad...
Neurology. 99 (2022) 24 - p. 1112-1114 , 2022

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

7

Eye movement disorders in inborn errors of metabolism: A qu..:

Koens, Lisette H. ; Tuitert, Inge ; Blokzijl, Hans...
Journal of Inherited Metabolic Disease. 45 (2022) 5 - p. 981-995 , 2022

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

8

Long-term MRI Findings in Patients With Cerebrotendinous Xa..:

Stelten, Bianca M.L. ; Lycklama à Nijeholt, Geert J. ; Hendriks, Evelien...
Neurology. 99 (2022) 13 - p. 559-566 , 2022

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

9

Expert opinion on diagnosing, treating and managing patient..:

Stelten, Bianca M. L. ; Dotti, Maria Teresa ; Verrips, Aad...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

10

Cerebrotendinous xanthomatosis‐associated diarrhea and resp..:

Brass, Eric P. ; Stelten, Bianca M.L. ; Verrips, Aad
JIMD Reports. 56 (2020) 1 - p. 105-111 , 2020

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

11

Five men with arresting and relapsing cerebral adrenoleukod..:

Carlson, Aaron M. ; Huffnagel, Irene C. ; Verrips, Aad...
Journal of Neurology. 268 (2020) 3 - p. 936-940 , 2020

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

12

Long-term treatment effect in cerebrotendinous xanthomatosi..:

Stelten, Bianca M.L. ; Huidekoper, Hidde H. ; van de Warrenburg, Bart P.C....
Neurology. 92 (2019) 2 - p. , 2019

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

13

Leigh syndrome caused by mutations in MTFMT is associated w..:

Hayhurst, Hannah ; de Coo, Irenaeus F. M. ; Piekutowska‐Abramczuk, Dorota...
Annals of Clinical and Translational Neurology. 6 (2019) 3 - p. 515-524 , 2019

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

14

Hypointensity of the Basal Ganglia in Adults with Glucose T..:

van Samkar, Anusha ; Leen, Willemijn G. ; Willemsen, Michèl A. A. P..
Annals of Neurology. 87 (2019) 1 - p. 10-11 , 2019

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

15

Autosomal recessive limb‐girdle and Miyoshi muscular dystro..:

ten Dam, Leroy ; Frankhuizen, Wendy S. ; Linssen, Wim H.J.P....
Clinical Genetics. 96 (2019) 2 - p. 126-133 , 2019

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