Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
about
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaFunctional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiencyEight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academiaNephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.Renal growth in isolated methylmalonic acidemiaGene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene deliverySDF1 induction by acidosis from principal cells regulates intercalated cell subtype distribution.A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study.Extended newborn screening: an update for the general paediatrician.Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.Clinical features and management of organic acidemias in Japan.Renal Involvement in Methylmalonic Aciduria.Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.
P2860
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P2860
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
@en
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
@nl
type
label
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
@en
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
@nl
prefLabel
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
@en
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
@nl
P2093
P1476
Long-term outcome in methylmalonic aciduria: a series of 30 French patients
@en
P2093
I Desguerre
J F Benoist
M A Cosson
P304
P356
10.1016/J.YMGME.2009.03.006
P577
2009-03-24T00:00:00Z