“…METHODS AND RESULTS: Here, we report on a new missense PIGA germline mutation [g.15342986C>T (p.S330N)] identified via WES followed by Sanger sequencing, in a Chinese male infant presenting with developmental arrest, infantile spasms, a pattern of lesion distribution on brain MRI resembling that typical of maple syrup urine disease, contractures, dysmorphism, elevated alkaline phosphatase, mixed hearing loss (a combination of conductive and sensorineural), liver dysfunction, mitochondrial complex I and V deficiency, and therapy-responsive dyslipidemia with confirmed lipoprotein lipase deficiency. …”
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“…This diagnostic approach allowed the diagnosis, treatment and survival of 4 neonates (maple syrup urine disease, propionic acidemia, carnitine-acylcarnitine translocase deficiency and type 1 tyrosinemia). …”
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“…The present study investigates the suitability of Fourier-transformed mid-infrared spectroscopy (MIR: 4000–550 cm(−1)) combined with multivariate analysis to determine CT concentration and structure (mean degree of polymerization—mDP, procyanidins:prodelphidins ratio—PC:PD and cis:trans ratio) in oak, field maple and goat willow foliage, using HCl:Butanol:Acetone:Iron (HBAI) and thiolysis-HPLC as reference methods. …”
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“…BACKGROUND: Acer truncatum (purpleblow maple) is a woody tree species that produces seeds with high levels of valuable fatty acids (especially nervonic acid). …”
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“…We show that across 539 plasma samples, CTD-based network-quantified measures can reproduce accurate diagnosis of 16 different IEMs, including adenylosuccinase deficiency, argininemia, argininosuccinic aciduria, aromatic l-amino acid decarboxylase deficiency, cerebral creatine deficiency syndrome type 2, citrullinemia, cobalamin biosynthesis defect, GABA-transaminase deficiency, glutaric acidemia type 1, maple syrup urine disease, methylmalonic aciduria, ornithine transcarbamylase deficiency, phenylketonuria, propionic acidemia, rhizomelic chondrodysplasia punctata, and the Zellweger spectrum disorders. …”
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“…The most susceptible cultivar was Maple Arrow, whereas Pagoda and Conrad were more tolerant to aphid feeding damage. …”
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“…Feta cheese had the greatest number of FSC; pure maple syrup had the lowest. Ninety-six foods had at least one FSC detected in plasma (mean 28 ± 32, range 1–143) with 16% of all FSC found in plasma. …”
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“…Red maple (Acer rubrum L.) is a type of colorful ornamental tree with great economic value. …”
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“…The Area Under the Curve (AUC) and the sensitivity and specificity were determined for the RAI-HC scales: DIVERT, Activities of Daily Living Hierarchy (ADLh), Cognitive Performance Scale (CPS), Changes in Health, End-Stage Diseases, Signs, and Symptoms Scale (CHESS), and Method for Assigning Priority Levels (MAPLe). RESULTS: Altogether 3091 home care clients had a total of 7744 RAI-HC assessments, of which 1658 (21.4%) were followed by an unplanned hospitalization. …”
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“…The most efficient tree species in trapping dust on their leaves was the silver linden (98.5–123.5 mg m(−2)), followed by the Norway maple (74.2–84.8 mg m(−2)) and the common ash (62.8–74.6 mg m(−2)). …”
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“…An IEM was confirmed in 222 (1/2670): aminoacidopathies: 89 hyperphenylalaninemia (HPA) (51 benign HPA, 32 phenylketonuria, 4 DNAJC12 defect, and 2 primapterinuria), 6 hypermethioninemia, 3 tyrosinemia type 1 (TYR‐1), 1 TYR‐3, 4 maple syrup urine disease (MSUD), 2 branched‐chain amino acid transferase 2 deficiency, 2 homocystinuria, 1 cystinuria, 2 ornithine transcarbamylase (OTC) deficiency, 2 citrullinemia type I (CTLN1); FAO defects: 43 medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD), 13 very long‐chain acyl‐CoA dehydrogenase deficiency, 2 long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD), 1 multiple acyl‐coA dehydrogenation deficiency, 11 systemic primary carnitine deficiency, 2 carnitine palmitoyltransferase type 2 (CPT‐II) deficiency, 1 CPT‐I deficiency; organic acidurias: 12 glutaric aciduria type 1 (GA‐1), 4 methylmalonic acidemia (MMA), 7 MMA including combined cases with homocystinuria (MMAHC), 6 propionic acidemia (PA), 7 3‐methylcrotonyl‐CoA carboxylase, 1 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency lyase deficiency. …”
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“…The simulated solutions of the model were analyzed using MAPLE-18 with Runge–Kutta–Felberg method (RKF45 solver). …”
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“…We compare four different routines for standardization of leakage data and assess a novel control method—immersion in liquid nitrogen in lieu of traditional autoclaving—and apply them to woody twigs collected from 12 maple (Acer) species in early spring. We compare leakage data from these samples using each of four previously published forms of data analysis and autoclaving vs. liquid nitrogen controls and validate each of these approaches against visual estimates of freezing damage and differential thermal analysis. …”
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“…METHODS: Sexually active men who have sex with men (MSM) were recruited at the Maple Leaf Medical Clinic in downtown Toronto from September 2010 to June 2012. …”
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“…The types of samples included dendrobium maple, Dendrobium nobile (flowers, stems, leaves) and Dendrobium officinale (flowers, stems, leaves, powder, tablets). …”
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