Early cardiomyopathy without severe metabolic dysregulation in a patient with <scp>cblB</scp> ‐type methylmalonic acidemia-Reference-Cited by-同舟云学术

Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB ‐type methylmalonic acidemia

Published:2022-06-16 Issue:7 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Agnarsdóttir Dagbjört¹^ORCID,Sigurjónsdóttir Vaka Kristín²,Emilsdóttir Arna Rut¹^ORCID,Petersen Erna³,Sigfússon Gunnlaugur²,Rögnvaldsson Ingólfur²,Franzson Leifur¹,Vernon Hilary⁴,Bjornsson Hans Tomas¹⁴⁵

Affiliation:

1. Department of Genetics and Molecular Medicine Landspitali University Hospital Reykjavik Iceland

2. Hringurinn, Childrens Hospital Landspitali University Hospital Reykjavik Iceland

3. Department of Nutrition Landspitali University Hospital Reykjavik Iceland

4. McKusick‐Nathans Institute of Genetic Medicine Johns Hopkins University Baltimore Maryland USA

5. Faculty of Medicine University of Iceland Reykjavik Iceland

Funder

Department of Genetics, University of Alabama at Birmingham

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1971

Reference11 articles.

1. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

2. Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type

3. Methylmalonic and propionic acidemias: clinical management update

4. Proposed Plasma Ammonia Reference Intervals in a Reference Group of Hospitalized Term and Preterm Neonates

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