E-LIB Suche - Ergebnisse für: Berry, Gerard T.

1

Frontiers in congenital disorders of glycosylation consorti..:

Lam, Christina ; Scaglia, Fernando ; Berry, Gerard T....
Molecular Genetics and Metabolism. 142 (2024) 4 - p. 108509 , 2024

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

2

Impact of supplementation with L-citrulline/arginine after ..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Molecular Genetics and Metabolism. 141 (2024) 3 - p. 108112 , 2024

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

3

Severity-adjusted evaluation of liver transplantation on he..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Genetics in Medicine. 26 (2024) 4 - p. 101039 , 2024

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

4

Initial results from the PHEFREE longitudinal natural histo..:

Christ, Shawn E. ; Arnold, Georgianne ; Lichter-Konecki, Uta...
Molecular Genetics and Metabolism. 143 (2024) 1-2 - p. 108541 , 2024

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

5

Health and well‐being of maturing adults with classic galac..:

Garrett, Olivia S. ; Druss, Jared J. ; Vos, E. Naomi...
Journal of Inherited Metabolic Disease. , 2024

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

6

Lipodystrophy in methylmalonic acidemia associated with ele..:

Manoli, Irini ; Sysol, Justin R. ; Head, PamelaSara E....
JCI Insight. 9 (2024) 4 - p. , 2024

Link: https://doi.org/10.1172/..

7

Exome and genome sequencing in a heterogeneous population o..:

Pucel, Jenna ; Briere, Lauren C. ; Reuter, Chloe...
Genetics in Medicine. 26 (2024) 6 - p. 101115 , 2024

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

8

LUSTR: a new customizable tool for calling genome-wide germ..:

Lu, Jinfeng ; Toro, Camilo ; Adams, David R....
BMC Genomics. 25 (2024) 1 - p. , 2024

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

9

Severity-adjusted evaluation of initial dialysis on short-t..:

Zielonka, Matthias ; Kölker, Stefan ; Garbade, Sven F....
Molecular Genetics and Metabolism. 143 (2024) 1-2 - p. 108566 , 2024

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

10

MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS ..:

Schwahn, Bernd C. ; Berry, Gerard T. ; Santra, Saikat...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107476 , 2023

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

11

Continuing a search for a diagnosis: the impact of adolesce..:

Miller, Ilana M. ; Yashar, Beverly M. ; Acosta, Maria T....
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

12

Participation in a national diagnostic research study: asse..:

Rosenfeld, Lindsay E. ; LeBlanc, Kimberly ; Nagy, Anna...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

13

MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS ..:

Schiff, Manuel ; Schwahn, Bernd C. ; Chabrol, Brigitte...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107475 , 2023

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

14

The treatment of biochemical genetic diseases: From substra..:

Vos, E. Naomi ; Demirbas, Didem ; Mangel, Matthew...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107693 , 2023

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

15

The hypergonadotropic hypogonadism conundrum of classic gal..:

Derks, Britt ; Rivera-Cruz, Greysha ; Hagen-Lillevik, Synneva...
Human Reproduction Update. 29 (2022) 2 - p. 246-258 , 2022

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