E-LIB Suche - Ergebnisse für: Desnick, Robert J

1

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/..

2

Congenital erythropoietic porphyria:

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

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

3

Anderson–Fabry disease management: role of the cardiologist:

Pieroni, Maurizio ; Namdar, Mehdi ; Olivotto, Iacopo.
European Heart Journal. 45 (2024) 16 - p. 1395-1409 , 2024

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

4

Nemaline myopathy: reclassification of previously reported ..:

Haghighi, Alireza ; Alvandi, Zahra ; Nilipour, Yalda...
European Journal of Human Genetics. 31 (2023) 11 - p. 1237-1250 , 2023

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

5

P023: The clinical utility of plasma Lyso-Gb3 in the diagno..:

Li, Wenjiao ; Stauffer, Brandon ; Chen, Hongjie...
Genetics in Medicine Open. 1 (2023) 1 - p. 100033 , 2023

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

6

P031: Fabry disease: Genotype/phenotype correlations for 17..:

Cody, Neal ; Phua, Yu Leng ; Li, Wenjiao...
Genetics in Medicine Open. 1 (2023) 1 - p. 100041 , 2023

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

7

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/..

8

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/..

9

Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase ..:

Yasuda, Makiko ; Lee, Sangmi ; Gan, Lin...
Biomolecules. 14 (2023) 1 - p. 27 , 2023

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

10

Kurt Hirschhorn (1926–2022):

Gelb, Bruce D. ; Desnick, Robert J.
The American Journal of Human Genetics. 110 (2023) 5 - p. 717-721 , 2023

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

11

A universal GlycoDesign for lysosomal replacement enzymes t..:

Chen, Yen-Hsi ; Tian, Weihua ; Yasuda, Makiko...
Frontiers in Bioengineering and Biotechnology. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

12

Pain in acute hepatic porphyrias: Updates on pathophysiolog..:

Kazamel, Mohamed ; Pischik, Elena ; Desnick, Robert J.
Frontiers in Neurology. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

13

A pilot study of oral iron therapy in erythropoietic protop..:

Balwani, Manisha ; Naik, Hetanshi ; Overbey, Jessica R....
Molecular Genetics and Metabolism Reports. 33 (2022) - p. 100939 , 2022

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

14

ABCB6 polymorphisms are not overly represented in patients ..:

Farrell, Colin P. ; Nicolas, Gäel ; Desnick, Robert J....
Blood Advances. 6 (2022) 3 - p. 760-766 , 2022

Link: https://doi.org/10.1182/..

15

Acute Hepatic Porphyrias: "Purple Flags"—Clinical Features ..:

Anderson, Karl E. ; Desnick, Robert J. ; Stewart, M. Felicity..
The American Journal of the Medical Sciences. 363 (2022) 1 - p. 1-10 , 2022

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