نتایج جستجو برای: propionic acidemia
تعداد نتایج: 4552 فیلتر نتایج به سال:
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: 50,000 and PA of ~ 1:100'000 -150,000. Patients present either shortly after birth with acute deterioration, metabolic...
The purpose of this paper is to show the effects of level of substitution with a linear chain anhydride (propionic anhydride) on decay resistance and on water vapour sorption of modified Scots pine sapwood. The work described herein has demonstrated that chemically modified Scots pine sapwood with propionic anhydride afforded substantial bioprotection against Coniophora puteana. It required a w...
BACKGROUND Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations between prenatal sonography and PA have been documented so far. CASE PRESENTATION We report the case o...
BACKGROUND The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key importance. AIM To describe European dietary practices in the management of patients with PA prior to the publication of the European PA guidelines. METHODS This was a cross-sectional survey consisting of 27 questions about the die...
The mol-ecule of the title compound, C(4)H(8)N(2)OS, is essentially planar; it adopts a trans configuration with respect to the position of the propionyl group relative to the thiono S atom about the C-N bond. The mol-ecular structure is stabilized by an intra-molecular N-H⋯O hydrogen bond between the propionyl O atom and the amide H atom. Mol-ecules are linked into a two-dimensional network pa...
PURPOSE Clinicians do not have an evidence base they can use to recommend optimum intervention intensity for preschool children who present with speech sound disorder (SSD). This study examined the effect of dose frequency on phonological performance and the efficacy of the multiple oppositions approach. METHOD Fifty-four preschool children with SSD were randomly assigned to one of three inte...
We describe a method for determination of serum acetaminophen concentrations in serum by reversed phase high-pressure liquid chromatography. The homolog N-propionyl-p-aminophenol was used as an internal standard. The procedure, which requires only a single extraction with diethyl ether, can be optimized to be linear over the ranges of 10 to 100 or 1 to 20 mg/liter. Within-run CV was 1.2%; betwe...
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