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

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Journal
Haematologica
Published
2025-05-29
DOI
https://doi.org/10.3324/haematol.2025.287393
Primary Topic
Porphyrin Metabolism and Disorders
Type
article
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article

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

Robert Escher, Lucia Parisi
Haematologica
Porphyrin Metabolism and Disorders
article

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

Robert Escher, Lucia Parisi
article en

Abstract

No abstract available for this paper.
HaematologicaVol. 110(11)
Regionalspital Emmental (CH)
Openalex Percentile: Top 89%
Porphyrin Metabolism and Disorders
DOIOpen Access PDFOpenAlex
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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 — Robert Escher, Lucia Parisi · Haematologica (2025) | TGRS Research Map | TGRS