Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns.

Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns.

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http://www.wikidata.org/entity/Q43774926
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaPre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA)Growth retardation, general hypotonia, and loss of acquired neuromotor skills in the infants of mothers with cobalamin deficiency and the possible role of succinyl-CoA and glycine in the pathogenesis.Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.Mouse models for methylmalonic aciduriaCombined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic AcidemiaPlasma acylcarnitine profiling indicates increased fatty acid oxidation relative to tricarboxylic acid cycle capacity in young, healthy low birth weight men.Enamel defects and salivary methylmalonate in methylmalonic acidemia.Increased levels of plasma acylcarnitines in obesity and type 2 diabetes and identification of a marker of glucolipotoxicity.Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patientsDecreased long-chain acylcarnitines from insufficient β-oxidation as potential early diagnostic markers for Parkinson's disease.A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing.Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level.
P2860

Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns.

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http://www.wikidata.org/entity/Q43774926
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Rapid diagnosis of methylmalon ...... cimens obtained from newborns.
@en
Rapid diagnosis of methylmalon ...... cimens obtained from newborns.
@nl
type
label
Rapid diagnosis of methylmalon ...... cimens obtained from newborns.
@en
Rapid diagnosis of methylmalon ...... cimens obtained from newborns.
@nl
prefLabel
Rapid diagnosis of methylmalon ...... cimens obtained from newborns.
@en
Rapid diagnosis of methylmalon ...... cimens obtained from newborns.
@nl
P1433
P1476
P2093
P304
P31
P407
P433
P478
P577
P698
P1433
P1476
Rapid diagnosis of methylmalon ...... cimens obtained from newborns.
@en
P2093
P304
P31
P407
P433
P478
P577
P698