Heterozygous Mutations in Both the AMN and CBS Genes: Double Haploinsufficiency as an Unusual Cause of Vitamin B12 Deficiency—A Case Report

Heterozygous Mutations in Both the AMN and CBS Genes: Double Haploinsufficiency as an Unusual Cause of Vitamin B12 Deficiency—A Case Report

ABSTRACT Vitamin B12 deficiency is usually simple to diagnose. However, our patient demonstrates that in difficult cases, the ordinary clinician may need a transdisciplinary approach. The finding of a double haploinsufficiency as a possible cause of vitamin B12 deficiency in our patient, illustrates...

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Bibliographic Details
Main Authors: Per Ole Iversen, Jean‐Louis Gueant, Abderrahim Oussalah, Helga Refsum, Ebba Nexo, Geir E. Tjønnfjord, Christian Qvigstad
Format: Article
Language:English
Published: Wiley 2024-11-01
Series:Clinical Case Reports
Subjects:
folic acid
general medicine
hematology
vitamin B12
Online Access:https://doi.org/10.1002/ccr3.9600
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https://doi.org/10.1002/ccr3.9600

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