E-LIB Suche - Ergebnisse für: Acquaviva, Cecile

1

Elastin turnover in Williams–Beuren and 7q11.23 microduplic..:

Guilhem, Alexandre ; Ruet, Severine ; Edery, Patrick...
European Heart Journal Open. 4 (2024) 3 - p. , 2024

Link: https://doi.org/10.1093/..

2

Primary hyperoxaluria in adults and children: a nationwide ..:

Pszczolinski, Romain ; Acquaviva, Cécile ; Berrahal, Insaf...
Clinical Kidney Journal. 17 (2024) 5 - p. , 2024

Link: https://doi.org/10.1093/..

3

Circulating Oxalate Levels in Short Bowel Syndrome as a Sev..:

Grocholski, Christophe ; Chambrier, Cécile ; Lauverjat, Madeleine...
Kidney International Reports. 9 (2024) 3 - p. 686-693 , 2024

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

4

Clinical practice recommendations for primary hyperoxaluria..:

Groothoff, Jaap W. ; Metry, Ella ; Deesker, Lisa...
Nature Reviews Nephrology. 19 (2023) 3 - p. 194-211 , 2023

Link: https://doi.org/10.1038/..

5

Determinants of Kidney Failure in Primary Hyperoxaluria Typ..:

Metry, Elisabeth L. ; Garrelfs, Sander F. ; Deesker, Lisa J....
Kidney International Reports. 8 (2023) 10 - p. 2029-2042 , 2023

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

6

Fifty years of research on mitochondrial fatty acid oxidati..:

Vianey‐Saban, Christine ; Guffon, Nathalie ; Fouilhoux, Alain.
Journal of Inherited Metabolic Disease. 46 (2023) 5 - p. 848-873 , 2023

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

7

Genetic assessment in primary hyperoxaluria: why it matters:

Mandrile, Giorgia ; Beck, Bodo ; Acquaviva, Cecile...
Pediatric Nephrology. 38 (2022) 3 - p. 625-634 , 2022

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

8

Very long‐term outcomes in 23 patients with cblA type methy..:

Marelli, Cecilia ; Fouilhoux, Alain ; Benoist, Jean‐Francois...
Journal of Inherited Metabolic Disease. 45 (2022) 5 - p. 937-951 , 2022

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

9

Disorders of Riboflavin Metabolism:

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

Vianey-Saban, Christine ; Acquaviva, Cécile ; Bosch, Annet M. - p. 547-562 , 2022

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

10

Long-Term Transplantation Outcomes in Patients With Primary..:

Metry, Elisabeth L. ; Garrelfs, Sander F. ; Peters-Sengers, Hessel...
Kidney International Reports. 7 (2022) 2 - p. 210-220 , 2022

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

11

Three cases of adult-onset Brown-Vialetto-Van Laere syndrom..:

Carey, Guillaume ; Kuchcinski, Gregory ; Gauvrit, Fanny...
Neuromuscular Disorders. 31 (2021) 8 - p. 752-755 , 2021

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

12

Response to Cysteamine in Osteoclasts Obtained from Patient..:

Quinaux, Thomas ; Bertholet-Thomas, Aurélia ; Servais, Aude...
Cells. 10 (2021) 9 - p. 2498 , 2021

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

13

An Atypical Case of Head Tremor and Extensive White Matter ..:

Boutouchent, Nassim ; Bourilhon, Julie ; Sudrié-Arnaud, Bénédicte...
Diagnostics. 11 (2021) 9 - p. 1561 , 2021

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

14

A case report of a mild form of multiple acyl-CoA dehydroge..:

Chautard, Robin ; Laroche-Raynaud, Cécile ; Lia, Anne-Sophie...
BMC Medical Genomics. 13 (2020) 1 - p. , 2020

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

15

Neuropsychological and neuroanatomical phenotype in 17 pati..:

Curie, Aurore ; Touil, Nathalie ; Gaillard, Ségolène...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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