'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.
about
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature reviewProposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaMass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic AcidemiasIdentification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patientsLiver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correctionLong-term neurological outcome of a cohort of 80 patients with classical organic acidurias.Chemoselective 15N tag for sensitive and high-resolution nuclear magnetic resonance profiling of the carboxyl-containing metabolome.Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.Renal growth in isolated methylmalonic acidemiaClinical and neurocognitive outcome in symptomatic isovaleric acidemia.Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia.Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants.Diagnosis of major organic acidurias in children: two years experience at a tertiary care centreAn Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.Neurocognitive phenotype of isolated methylmalonic acidemiaCarglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational studyThe proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient liversMitochondrial dysfunction in mut methylmalonic acidemia.Propionic acidemia and optic neuropathy: a report of two cases.Dietary practices in isovaleric acidemia: A European survey.Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.Newborn screening and renal disease: where we have been; where we are now; where we are going.Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.Organic acidurias: an updated review.Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients.Inborn errors of metabolism and expanded newborn screening: review and update.Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing.Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias.Chronic intermittent form of isovaleric aciduria in a 2-year-old boy.Acute pancreatitis with rapid clinical improvement in a child with isovaleric acidemia.Acute psychosis in propionic acidemia: 2 case reports.Increased susceptibility of brain acetylcholinesterase activity to methylmalonate in young rats with renal failure.Four years of expanded newborn screening in Portugal with tandem mass spectrometry.Clinical features and management of organic acidemias in Japan.A neuronal disruption in redox homeostasis elicited by ammonia alters the glycine/glutamate (GABA) cycle and contributes to MMA-induced excitability.Renal Involvement in Methylmalonic Aciduria.Perioperative management of living-donor liver transplantation for methylmalonic acidemia.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
P2860
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P2860
'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.
description
2006 nî lūn-bûn
@nan
2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
'Classical' organic acidurias, ...... sing tandem mass spectrometry.
@ast
'Classical' organic acidurias, ...... sing tandem mass spectrometry.
@en
'Classical' organic acidurias, ...... sing tandem mass spectrometry.
@nl
type
label
'Classical' organic acidurias, ...... sing tandem mass spectrometry.
@ast
'Classical' organic acidurias, ...... sing tandem mass spectrometry.
@en
'Classical' organic acidurias, ...... sing tandem mass spectrometry.
@nl
prefLabel
'Classical' organic acidurias, ...... sing tandem mass spectrometry.
@ast
'Classical' organic acidurias, ...... sing tandem mass spectrometry.
@en
'Classical' organic acidurias, ...... sing tandem mass spectrometry.
@nl
P2093
P1476
'Classical' organic acidurias, ...... using tandem mass spectrometry
@en
P2093
Bridget Wilcken
Federica Deodato
William Rhead
Wulf Röschinger
P2888
P304
P356
10.1007/S10545-006-0278-Z
P577
2006-04-01T00:00:00Z
P6179
1032422161