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Develo** X-ray Computed Tomography to non-invasively image 3-D root systems architecture in soil
The need to observe roots in their natural undisturbed state within soil, both spatially and temporally, is a challenge that continues to occupy researchers studying the rhizosphere.
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Pathophysiology of fatty acid oxidation disorders
Mitochondrial fatty acid oxidation represents an important pathway for energy generation during periods of increased energy demand such as fasting, febrile illness and muscular exertion. In liver, the primary ...
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Mathematical Modelling of the Aux/IAA Negative Feedback Loop
The hormone auxin is implicated in regulating a diverse range of developmental processes in plants. Auxin acts in part by inducing the Aux/IAA genes. The associated pathway comprises multiple negative feedback lo...
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Longitudinal Assessment of Ovarian Perifollicular and Endometrial Vascularity by Power Doppler Ultrasound in Pregnant and Non-Pregnant Cycles in the IVF Setting
Purpose: This longitudinal study aimed to compare ovarian perifollicular and endometrial blood flow (PFBF and EBF, respectively) during the follicular phase in pregnant and non-pregnant IVF cycles.
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Enhanced systemic transgene expression after nonviral salivary gland transfection using a novel endonuclease inhibitor/DNA formulation
Gene transfer to the major salivary glands is an attractive method for the systemic delivery of therapeutic proteins. To date, nonviral gene transfer to these glands has resulted in inadequate systemic protein...
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Heavy ion collisions at collider energies—Insights from PHENIX
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First results from RHIC-PHENIX
The PHENIX experiment consists of a large detector system located at the newly commissioned relativistic heavy ion collider (RHIC) at the Brookhaven National Laboratory. The primary goal of the PHENIX experime...
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Quantitative measurement of total and free 3-hydroxy fatty acids in serum or plasma samples: short-chain 3-hydroxy fatty acids are not esterified
Diagnostic protocols for disorders of mitochondrial fatty acid oxidation (FAO) generally include the measurement of plasma acylcarnitines. Many biochemical intermediates of FAO resulting from a metabolic block...
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Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders
Mitochondrial fatty acid oxidation disorders cause hypoglycaemia, hepatic dysfunction, myopathy, cardiomyopathy and encephalopathy. Despite their recognition for more than 15 years, diagnosis and treatment rem...
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The neuronal ceroid-lipofuscinoses (Batten disease): A new class of lysosomal storage diseases
The neuronal ceroid-lipofuscinoses (Batten disease) are a group of severe neurodegenerative disorders characterized clinically by visual loss, seizures and psychomotor degeneration, and pathologically by loss ...
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N-acetylaspartylglutamate in Canavan disease: an adverse effector?
We measured N-acetylaspartate and its precursor/product N-acetylaspartylglutamate (NAAG) in urine of patients with Canavan disease using capillary zone electrophoresis. Abnormal levels of NAAG were found in 3...
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Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism
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Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease
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Polyunsaturated fatty acids reverse the lysosomal storage and accumulation of subunit 9 of mitochondrial F1F0-ATP synthase in cultured lymphoblasts from patients with Batten disease
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Late-onset holocarboxylase synthetase deficiency
We report a 21-month-old female patient whose urine organic acid profile suggested a biotin utilization abnormality consistent with multiple carboxylase deficiency. For most previously reported patients, holoc...
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β-Ketothiolase (2-methylacetoacetyl-coenzyme a thiolase) deficiency: identification of two patients in israel
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Assignment of the human peroxisomal palmitoyl-CoA oxidase gene to chromosome 17q23-qter by PCR technique
Human peroxisomal palmitoyl-CoA oxidase plays a pivotal role in the β-oxidation of fatty acids. Its importance is reflected by the severity of the disease associated with its deficiency in man. The gene was pr...
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Medium-chain acyl-CoA dehydrogenase deficiency presenting in the neonatal period: The first Italian case
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Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia
6-Methyluracil (6MU) has been identified in urine collected during acute illness in two children with β-ketothiolase deficiency (approximately 1 mmol/L) and in two children with recurrent infection-related ket...