Megaloblastic anemia with homocystinuria type cblE: Atypical presentation in a pediatric patient with high transfusion requirement and autoimmune phenomena-Reference-Cited by-同舟云学术

Megaloblastic anemia with homocystinuria type cblE: Atypical presentation in a pediatric patient with high transfusion requirement and autoimmune phenomena

Published:2024-01-12 Issue:4 Volume:71 Page:
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatric Blood & Cancer

Author:

Rossetti Estefania¹,Pepe Carolina²,Eandi Eberle Silvia³,Bindi Veronica⁴^ORCID,Fernandez Diego³,Nieto Leandro³,Gonzalez Maria Magdalena³,Avalos Vanesa¹

Affiliation:

1. Pediatric Hematology and Oncology Department Hospital de Pediatría Juan P. Garrahan Buenos Aires Argentina

2. Molecular Biology Department Hospital de Pediatría Juan P. Garrahan Buenos Aires Argentina

3. Inborn Errors of Metabolism Department Hospital de Pediatría Juan P. Garrahan Buenos Aires Argentina

4. Hospital de Pediatría Juan P. Garrahan Biochemistry Laboratory Buenos Aires Argentina

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.30867

Reference11 articles.

1. RosenblattD WatkinsD.Homocystinuria without methymalonic aciduria.Oprhanet:the portal for rare diseases and orphan drugs;2012.

2. Online Mendelian inheritance in man OMIM®.Johns Hopkins University Baltimore MD. MIM Number: 236270 05/08/2017.https://omim.org/

3. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

4. CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

5. cblEType of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression

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