Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
about
Structure and function of biotin-dependent carboxylasesCrystal structure of the α6β6 holoenzyme of propionyl-coenzyme A carboxylaseRecapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytesTowards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia.Methylmalonic and propionic acidemias: clinical management update.Unusual presentation of propionic acidaemia as isolated cardiomyopathy.
P2860
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
description
2003 nî lūn-bûn
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2003年の論文
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name
Functional analysis of PCCB mu ...... icient human skin fibroblasts.
@en
type
label
Functional analysis of PCCB mu ...... icient human skin fibroblasts.
@en
prefLabel
Functional analysis of PCCB mu ...... icient human skin fibroblasts.
@en
P2093
P1476
Functional analysis of PCCB mu ...... ficient human skin fibroblasts
@en
P2093
C Pérez-Cerdá
L R Desviat
P Rodríguez-Pombo
P356
10.1016/S0925-4439(03)00039-5
P577
2003-05-01T00:00:00Z