Progress toward improved therapies for inborn errors of metabolism.

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Aldehyde dehydrogenase 2 in aplastic anemia, Fanconi anemia and hematopoietic stem cells Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.

P2860

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Progress toward improved therapies for inborn errors of metabolism.

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http://www.wikidata.org/entity/Q38601073

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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Progress toward improved therapies for inborn errors of metabolism.

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Progress toward improved therapies for inborn errors of metabolism.

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Progress toward improved therapies for inborn errors of metabolism.

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Progress toward improved therapies for inborn errors of metabolism.

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Nicola Brunetti-Pierri

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Virginia Maria Ginocchio

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A 3-year randomized therapeutic trial of nitisinone in alkaptonuria

Is genetic rescue of cystinosis an achievable treatment goal?

The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy

Brief reports: Lysosomal cross-correction by hematopoietic stem cell-derived macrophages via tunneling nanotubes

Adapting proteostasis for disease intervention

Gene editing of CCR5 in autologous CD4 T cells of persons infected with HIV

Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation

Treatment of a methylmalonyl-CoA mutase stopcodon mutation

Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008

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R27-35

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scholarly article

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10.1093/HMG/DDV418

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P478

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2015-10-06T00:00:00Z

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P698

26443595

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Progress toward improved therapies for inborn errors of metabolism.

about

P2860

P2860

Progress toward improved therapies for inborn errors of metabolism.

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