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HEREDITARY METABOLIC DISEASES AND STEM CELL TRANSPLANTATION.

机译:遗传性代谢疾病和干细胞移植。

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摘要

The majority of metabolic diseases is transmitted in the autosomal recessive mode. In this publication metabolic diseases following this mode of transmission will be discussed. For reasons of simplification these metabolic diseases are divided in bone marrow related (BR) and non-bone marrow related (non-BR). In the bone marrow related metabolic diseases the biochemical defect is expressed within the bone marrow resulting in bone marrow disease and ultimately in progressive bone abnormalities. Two aspects will be discussed: hereditary metabolic diseases and donor suitability, and hereditary metabolic diseases and therapeutic bone marrow (stem cell) transplantation (BMT/SCT).
机译:大多数代谢疾病在常染色体隐性模式中传播。在该出版物之后,将讨论这种传输模式的代谢疾病。出于简化的原因,这些代谢疾病分为骨髓相关(BR)和非骨髓相关(非Br)。在骨髓相关的代谢疾病中,生物化学缺陷在骨髓内表达导致骨髓疾病,最终患者骨髓疾病。将讨论两个方面:遗传性代谢疾病和供体适用性,遗传性代谢疾病和治疗骨髓(干细胞)移植(BMT / SCT)。

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