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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| 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
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.9600 |
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