E-LIB Suche - Ergebnisse für: Erwin, Angelika L.

1

Congenital erythropoietic porphyria:

To‐Figueras, Jordi ; Erwin, Angelika L. ; Aguilera, Paula..
Liver International. , 2024

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

2

P044: Congenital erythropoietic porphyria: Disease recurren..:

Erwin, Angelika ; Schreiber, Allison ; Desnick, Robert
Genetics in Medicine Open. 2 (2024) - p. 100921 , 2024

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

3

Evidence-based consensus guidelines for the diagnosis and m..:

Dickey, Amy K. ; Naik, Hetanshi ; Keel, Siobán B....
Journal of the American Academy of Dermatology. 89 (2023) 6 - p. 1227-1237 , 2023

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

4

Acute hepatic porphyrias: Recommendations for diagnosis and..:

Moghe, Akshata ; Dickey, Amy ; Erwin, Angelika...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107670 , 2023

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

5

Noninvasive prenatal screening (NIPS) for fetal chromosome ..:

Dungan, Jeffrey S. ; Klugman, Susan ; Darilek, Sandra...
Genetics in Medicine. 25 (2023) 2 - p. 100336 , 2023

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

6

Noninvasive prenatal screening (NIPS) for fetal chromosome ..:

Dungan, Jeffrey S. ; Klugman, Susan ; Darilek, Sandra...
Genetics in Medicine. 25 (2023) 8 - p. 100874 , 2023

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

7

P013: Congenital erythropoietic porphyria: Variable age of ..:

Erwin, Angelika ; Agarwala, Manoj ; Naik, Hetanshi...
Genetics in Medicine Open. 1 (2023) 1 - p. 100023 , 2023

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

8

Evidence-based consensus guidelines for the diagnosis and m..:

Levy, Cynthia ; Dickey, Amy K. ; Wang, Bruce...
Hepatology. 79 (2023) 3 - p. 731-743 , 2023

Link: https://doi.org/10.1097/..

9

Prevalence of Undiagnosed Acute Hepatic Porphyria in Cyclic..:

Cheng, Shanna ; Yu, Elliot ; Garacci, Zhuping..
Digestive Diseases and Sciences. 68 (2022) 5 - p. 2107-2114 , 2022

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

10

TAOK1 is associated with neurodevelopmental disorder and es..:

Woerden, Geeske M. ; Bos, Melanie ; Konink, Charlotte...
Human Mutation. 42 (2021) 4 - p. 445-459 , 2021

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

11

Challenges of diagnosis and management in children with lat..:

Truong, Nhu-Hac ; Shealy, Amy ; Moran, Rocio..
Molecular Genetics and Metabolism. 132 (2021) - p. S172-S173 , 2021

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

12

Porphyrias in the Age of Targeted Therapies:

Erwin, Angelika L. ; Balwani, Manisha
Diagnostics. 11 (2021) 10 - p. 1795 , 2021

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

13

Disease Burden and Healthcare Utilization Among Patients wi..:

Erwin, Angelika ; Silver, Samuel ; Meninger, Stephen...
Neurology. 96 (2021) 15_supplement - p. , 2021

Link: https://doi.org/10.1212/..

14

Evaluating the Patient-Reported Outcomes Measurement Inform..:

Naik, Hetanshi ; Overbey, Jessica R. ; Montgomery, Guy H....
Genetics in Medicine. 22 (2020) 3 - p. 590-597 , 2020

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

15

Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Resul..:

Saberi, Behnam ; Naik, Hetanshi ; Overbey, Jessica R....
Hepatology. 73 (2020) 5 - p. 1736-1746 , 2020

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