E-LIB Suche - Ergebnisse für: Devanapalli, Beena

1

Biotinidase deficiency: A treatable neurometabolic disorder:

Devanapalli, Beena ; Sze Hui Wong, Rachel ; Lim, Natalie...
Brain and Development Case Reports. 2 (2024) 2 - p. 100021 , 2024

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

2

Developmental delay and non-phenylketonuria (PKU) hyperphen..:

Wong, Rachel Sze Hui ; Mohammad, Shekeeb ; Parayil Sankaran, Bindu...
Brain and Development. 45 (2023) 9 - p. 523-531 , 2023

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

3

Connective tissue presentation in two families expands the ..:

Evesson, Frances J ; Dziaduch, Gregory ; Bryen, Samantha J...
Human Molecular Genetics. 32 (2023) 12 - p. 2084-2092 , 2023

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

4

Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on ..:

Thompson, Susan ; Hertzog, Ashley ; Selvanathan, Arthavan...
Nutrients. 15 (2023) 3 - p. 531 , 2023

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

5

Multiple acyl-Coa dehydrogenase deficiency (MADD) – adult a..:

Devanapalli, Beena ; Tchan, Michel ; Ellaway, Carolyn.
Pathology. 54 (2022) - p. S14 , 2022

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

6

Challenges in Diagnosing Intermediate Maple Syrup Urine Dis..:

Sajeev, Mona ; Chin, Sharon ; Ho, Gladys...
International Journal of Neonatal Screening. 7 (2021) 2 - p. 25 , 2021

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

7

GLRX5-associated [Fe-S] cluster biogenesis disorder: furthe..:

Sankaran, Bindu Parayil ; Gupta, Sachin ; Tchan, Michel...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

8

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/..

9

The use of sodium DL-3-Hydroxybutyrate in severe acute neur..:

Bhattacharya, Kaustuv ; Matar, Walid ; Tolun, Adviye Ayper...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

10

Regulation of mitochondrial metabolism in murine skeletal m..:

Montgomery, Magdalene K. ; Osborne, Brenna ; Brandon, Amanda E....
The FASEB Journal. 33 (2019) 11 - p. 12264-12276 , 2019

Link: https://doi.org/10.1096/..

11

Maternal carnitine uptake deficiency detected by newborn sc..:

Devanapalli, Beena ; Carpenter, Kevin
Pathology. 48 (2016) - p. S29 , 2016

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

12

First steps in the harmonisation of adult plasma amino acid..:

de Hora, Mark ; Pitt, James ; Mishra, Avantika...
Pathology. 48 (2016) - p. S62 , 2016

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

13

Effect of long-term storage at −80 °C on the various lipid ..:

Devanapalli, Beena ; Bermingham, Margaret A. ; Mahajan, Deepika
Clinica Chimica Acta. 322 (2002) 1-2 - p. 179-181 , 2002

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

14

Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on ..:

Thompson, Susan ; Hertzog, Ashley ; Selvanathan, Arthavan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9920477/. , 2023

Link: http://www.ncbi.nlm.nih...

15

GLRX5-associated [Fe-S] cluster biogenesis disorder: furthe..:

Sankaran, Bindu Parayil ; Gupta, Sachin ; Tchan, Michel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8565018/. , 2021

Link: http://www.ncbi.nlm.nih...