E-LIB Suche - Ergebnisse für: Marzia Pasquali

1

Combined liver and kidney transplant in methylmalonic acide..:

Lander, Julie ; Book, Linda ; Rodriguez-Davalos, Manuel..
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108230 , 2024

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

2

Newborn Screening: Current Practice and Our Journey over th..:

Cao, Jing ; Pasquali, Marzia ; Jones, Patricia M
The Journal of Applied Laboratory Medicine. 9 (2024) 4 - p. 820-832 , 2024

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

3

Clinical and biochemical characterization of a patient with..:

Coody, Troy ; De Biase, Irene ; Sutton, V. Reid..
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108215 , 2024

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

4

Applying phenotypic evidence to support the molecular diagn..:

Groopman, Emily ; Goldstein, Jenny ; Dickson, Alexa...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108165 , 2024

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

5

#2015 Burosumab therapy in adult patients with X-linked hyp..:

Rotondi, Silverio ; Tartaglione, Lida ; Pasquali, Marzia...
Nephrology Dialysis Transplantation. 39 (2024) Supplement_1 - p. , 2024

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

6

#1762 Reduction in intradialytic glycemia and increased oxy..:

Caporotondi, Benedetta ; Rotondi, Silverio ; Tartaglione, Lida...
Nephrology Dialysis Transplantation. 39 (2024) Supplement_1 - p. , 2024

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

7

#1736 Correlation between chronic kidney disease-mineral an..:

Rotondi, Silverio ; Palladino, Gaia ; Tartaglione, Lida...
Nephrology Dialysis Transplantation. 39 (2024) Supplement_1 - p. , 2024

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

8

#2768 Evaluation of vascular access via a TRIAGE system for..:

Rotondi, Silverio ; Tartaglione, Lida ; Pasquali, Marzia...
Nephrology Dialysis Transplantation. 39 (2024) Supplement_1 - p. , 2024

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

9

P687: Variant classification discrepancies in the ACADVL ge..:

Dickson, Alexa ; Flowers, May ; Miller, Marcus...
Genetics in Medicine Open. 2 (2024) - p. 101591 , 2024

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

10

#4205 ESTIMATED PROXIMAL TUBULE FLUID PHOSPHATE (EPTFP) CON..:

Rotondi, Silverio ; Tartaglione, Lida ; Pasquali, Marzia...
Nephrology Dialysis Transplantation. 38 (2023) Supplement_1 - p. , 2023

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

11

Association between Cognitive Impairment and Malnutrition i..:

Rotondi, Silverio ; Tartaglione, Lida ; Pasquali, Marzia...
Nutrients. 15 (2023) 4 - p. 813 , 2023

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

12

Biochemical signatures of disease severity in multiple sulf..:

Adang, Laura A. ; Mowafy, Samar ; Herbst, Zackary M....
Journal of Inherited Metabolic Disease. 47 (2023) 2 - p. 374-386 , 2023

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

13

#5571 THERAPY WITH BUROSUMAB IN ADULT PATIENTS WITH X-LINKE..:

Rotondi, Silverio ; Tartaglione, Lida ; Perrotta, Adolfo...
Nephrology Dialysis Transplantation. 38 (2023) Supplement_1 - p. , 2023

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

14

Evaluation of partial pressure CO2 change in the dialyzer b..:

Rotondi, Silverio ; Perrotta, Adolfo ; Pintus, Giovanni...
Hemodialysis International. , 2023

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

15

PRIMARY CARNITINE DEFICIENCY: THE EFFECT OF 4-PHENYLBUTYRIC..:

Frigeni, Marta ; Ingoglia, Filippo ; Balakrishnan, Bijina..
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107413 , 2023

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