Query author contributions in Reactome
Reactome depends on collaboration between our curation team and outside experts to
assemble and peer-review its pathway modules. The integration of ORCID within Reactome
enables us to meet a key challenge with authoring, curating and reviewing biological
information by incentivizing and crediting the external experts that contribute their
expertise and time to the Reactome curation process. More information is available at
ORCID and Reactome.
If you have an ORCID ID that is not listed on this page, please
forward this information to us and we will update your Reactome pathway records.
Details on Person BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
| Class:Id | LiteratureReference:9912416 |
|---|
| _displayName | BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening |
|---|
| _timestamp | 2024-06-08 17:34:28 |
|---|
| author | [Person:9912439] Tangeraas, Trine
[Person:9912425] Constante, Juliana R
[Person:9912430] Backe, Paul Hoff
[Person:5693139] Oyarzabal, Alfonso
[Person:9912437] Neugebauer, Julia
[Person:9912435] Weinhold, Natalie
[Person:9912422] Boemer, Francois
[Person:9912428] Debray, François G
[Person:9912424] Ozturk-Hism, Burcu
[Person:9912442] Evren, Gumus
[Person:9912432] Tuba, Eminoglu F
[Person:9912429] Ummuhan, Oncul
[Person:9912418] Footitt, Emma
[Person:9912440] Davison, James
[Person:9912426] Martinez, Caroline
[Person:9912436] Bueno, Clarissa
[Person:9912427] Machado, Irene
[Person:5693121] Rodríguez-Pombo, Pilar
[Person:9912433] Al-Sannaa, Nouriya
[Person:9912420] De Los Santos, Mariela
[Person:9912421] López, Jordi Muchart
[Person:9912419] Ozturkmen-Akay, Hatice
[Person:9912441] Karaca, Meryem
[Person:9672323] Tekin, Mustafa
[Person:9912431] Pajares, Sonia
[Person:9912423] Ormazabal, Aida
[Person:9912417] Stoway, Stephanie D
[Person:5603227] Artuch, Rafael
[Person:9912443] Dixon, Marjorie
[Person:5610080] Mørkrid, Lars
[Person:9912438] García-Cazorla, Angeles |
|---|
| created | [InstanceEdit:9912434] Rothfels, Karen, 2024-06-08 |
|---|
| journal | Brain |
|---|
| pages | 3003-3013 |
|---|
| pubMedIdentifier | 36729635 |
|---|
| title | BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening |
|---|
| volume | 146 |
|---|
| year | 2023 |
|---|
| (literatureReference) | [FailedReaction:9912480] BCKDK loss-of-function mutations do not phosphorylate BCKDH [Homo sapiens]
[Pathway:9912481] Branched-chain ketoacid dehydrogenase kinase deficiency [Homo sapiens] |
|---|
|
[Change default viewing format]
|
No pathways have been reviewed or authored by BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening (9912416)
