E-LIB Suche - Ergebnisse für: Kauppinen, Raili

1

Long‐term complications in acute porphyria:

Pischik, Elena ; Lissing, Mattias ; Pallet, Nicolas.
Liver International. , 2024

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

2

Pathogenesis of acute encephalopathy in acute hepatic porph..:

Pischik, Elena ; Baumann, Katrin ; Karpenko, Alla.
Journal of Neurology. 270 (2023) 5 - p. 2613-2630 , 2023

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

3

Systematically testing human HMBS missense variants to reve..:

van Loggerenberg, Warren ; Sowlati-Hashjin, Shahin ; Weile, Jochen...
The American Journal of Human Genetics. 110 (2023) 10 - p. 1769-1786 , 2023

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

4

EXPLORE B: A prospective, long‐term natural history study o..:

Cassiman, David ; Kauppinen, Raili ; Monroy, Susana...
Journal of Inherited Metabolic Disease. 45 (2022) 6 - p. 1163-1174 , 2022

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

5

Long-term follow-up of acute porphyria in female patients: ..:

Baumann, Katrin ; Kauppinen, Raili
Molecular Genetics and Metabolism Reports. 30 (2022) - p. 100842 , 2022

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

6

Effects of rifampicin on porphyrin metabolism in healthy vo..:

Tolonen, Hanna ; Ranta, Sirpa ; Hämäläinen, Esa..
Basic & Clinical Pharmacology & Toxicology. 132 (2022) 3 - p. 281-291 , 2022

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

7

Reduction in Pain During and Between Attacks in Patients wi..:

Monroy, Susana ; Kauppinen, Raili ; Kuo, Hung-Chou...
Neurology. 96 (2021) 15_supplement - p. , 2021

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

8

FRI-442-Acute hepatic porphyria disease manifestations and ..:

Gouya, Laurent ; Balwani, Manisha ; Bissell, D Montgomery...
Journal of Hepatology. 70 (2019) 1 - p. e589-e590 , 2019

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

9

International Porphyria Molecular Diagnostic Collaborative:..:

Chen, Brenden ; Whatley, Sharon ; Badminton, Michael...
Genetics in Medicine. 21 (2019) 11 - p. 2605-2613 , 2019

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

10

EXPLORE: A prospective, multinational natural history study..:

Naik, Hetanshi ; Desnick, Robert ; Gouya, Laurent...
Neurology. 92 (2019) 15_supplement - p. , 2019

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

11

EXPLORE: A Prospective, Multinational, Natural History Stud..:

Gouya, Laurent ; Ventura, Paolo ; Balwani, Manisha...
Hepatology. 71 (2019) 5 - p. 1546-1558 , 2019

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

12

FRI-440-Management of acute hepatic porphyria attacks in eu..:

Sardh, Eliane ; Balwani, Manisha ; Gouya, Laurent...
Journal of Hepatology. 70 (2019) 1 - p. e588 , 2019

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

13

An update of clinical management of acute intermittent porp..:

Pischik, Elena ; Kauppinen, Raili
The Application of Clinical Genetics. , 2015

Link: https://doi.org/10.2147/..

14

Feline acute intermittent porphyria: a phenocopy masqueradi..:

Clavero, Sonia ; Bishop, David F. ; Haskins, Mark E....
Human Molecular Genetics. 19 (2009) 4 - p. 584-596 , 2009

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

15

LEAD POISONING FROM THE BEAUTY CASE: NEUROLOGIC MANIFESTATI..:

Pischik, Elena ; Kauppinen, Raili
Neurology. 71 (2008) 4 - p. 302-303 , 2008

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