E-LIB Suche - Ergebnisse für: Vijay, Suresh

1

Exploring the Cost-Effectiveness of Newborn Screening for M..:

Bean, Karen ; Jones, Simon A. ; Chakrapani, Anupam...
International Journal of Neonatal Screening. 10 (2024) 3 - p. 45 , 2024

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

2

Survival achieved in infants with rapidly progressive LAL-D..:

Vijay, Suresh ; Lacaille, Florence ; de las Heras Montero, Javier Adolfo...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108065 , 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

Outcomes of Pediatric Liver Transplantation in Glycogen Sto..:

Rajasekaran, Vivek ; Santra, Saikat ; Kelgeri, Chayarani...
Pediatric Transplantation. 28 (2024) 7 - p. , 2024

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

5

Diagnosis of inborn errors of metabolism through prenatal e..:

Allen, Stephanie K. ; Chandler, Natalie J. ; Kinning, Esther...
Prenatal Diagnosis. 44 (2023) 4 - p. 432-442 , 2023

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

6

Efficacy of early haematopoietic stem cell transplantation ..:

Sreekantam, Srividya ; Smith, Laura ; Stewart, Catherine...
Molecular Genetics and Metabolism Reports. 32 (2022) - p. 100881 , 2022

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

7

Renal outcome and plasma methylmalonic acid levels after is..:

Dello Strologo, Luca ; Spada, Marco ; Vici, Carlo Dionisi...
Molecular Genetics and Metabolism. 137 (2022) 3 - p. 265-272 , 2022

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

8

First case of desmosterolosis diagnosed by prenatal whole e..:

Hill, Chloe ; Noureldein, Mona ; Karkhanis, Pallavi...
American Journal of Medical Genetics Part A. 191 (2022) 3 - p. 859-863 , 2022

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

9

Long-term survival with sebelipase alfa enzyme replacement ..:

Vijay, Suresh ; Brassier, Anais ; Ghosh, Arunabha...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

10

New insights into carnitine‐acylcarnitine translocase defic..:

Ryder, Bryony ; Inbar‐Feigenberg, Michal ; Glamuzina, Emma...
Journal of Inherited Metabolic Disease. 44 (2021) 4 - p. 903-915 , 2021

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

11

Correction to: Long-term survival with sebelipase alfa enzy..:

Vijay, Suresh ; Brassier, Anais ; Ghosh, Arunabha...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

12

An uncommon cause of early infantile liver disease and rais..:

Sreekantam, Srividya ; Rizvi, Hina ; Brown, Rachel...
JIMD Reports. 54 (2020) 1 - p. 22-24 , 2020

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

13

Impact of two-year elosulfase alfa treatment on patient-rep..:

Adam, Jacqueline ; Cleary, Maureen ; Hendriksz, Christian...
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S19 , 2019

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

14

Final results of the phase 1/2, open-label clinical study o..:

Whitley, Chester B. ; Vijay, Suresh ; Yao, Bert...
Molecular Genetics and Metabolism. 126 (2019) 2 - p. 131-138 , 2019

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

15

Case series of sebelipase alfa hypersensitivity reactions a..:

Huffaker, Michelle F. ; Liu, Anne Y. ; Enns, Gregory M....
JIMD Reports. 49 (2019) 1 - p. 30-36 , 2019

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