Robuta

https://www.health.gov.au/our-work/inborn-errors-of-metabolism-program?language=mk
The Inborn Errors of Metabolism (IEM) program helps people and families who have problems with breaking down protein in their food. They need a special diet,...
errors of metabolismaustralian governmentprogramdepartmenthealth
https://pubmed.ncbi.nlm.nih.gov/25012580/
Approximately 1 in 400 neonates in Turkey is affected by inherited metabolic diseases. This high prevalence is at least in part due to consanguineous...
errors of metabolismnmrbasedscreeninginitial
https://pubmed.ncbi.nlm.nih.gov/30311390/
The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic...
uniqueaspectssequencevariantinterpretation
https://www.wikidata.org/wiki/Q36395382
sulfite oxidaseerrorsmolybdenummetabolismcombined