Myopathy, lactic acidosis and sideroblastic anemia syndrome 1 (MLASA1): clinical hallmarks in a large pedigree with a novel <i>PUS1</i> R144Q mutation, remarkable response to somatropin, and review of the literature

Open access journal of the Ferrata-Storti Foundation, a non-profit organization

Letters to the Editor

Myopathy, lactic acidosis and sideroblastic anemia syndrome 1 (MLASA1): clinical hallmarks in a large pedigree with a novel PUS1 R144Q mutation, remarkable response to somatropin, and review of the literature

Department of Medicine, Spital Emmental, Burgdorf

Haematologica Early view May 29, 2025 https://doi.org/10.3324/haematol.2025.287393

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Early view : Letters to the Editor

DOI

Pubmed

Published

2025-05-29

Published By

Ferrata Storti Foundation, Pavia, Italy

Print ISSN

0390-6078

Online ISSN

1592-8721

Online Views

131

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