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Vitamin B12-responsive methylmalonic acidemia type cblB

Orpha number ORPHA79311
Synonym(s) Vitamin B12-responsive methylmalonic aciduria, type cblB
Prevalence -
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • E71.1
ICD-O -
OMIM
UMLS -
MeSH
  • C537361
MedDRA -
SNOMED CT -

Summary

This disease is described under Vitamin B12-responsive methylmalonic acidemia


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Detailed information

Emergency guidelines
  • EN (2012,pdf)
Clinical practice guidelines
  • EN (2014)
Clinical genetics review
  • EN (2010)
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