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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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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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Article
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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Article
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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Article
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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Article
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...
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Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chainl-3-hydroxyacyl-CoA dehydrogenase deficiency
An infant with glycogen storage disease and prolonged malnourishment showed a urinary organic acid profile during an episode of fasting hypoglycaemia with inappropriate hypoketotic dicarboxylic aciduria that w...
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Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis
Prenatal diagnosis has been undertaken in 17 pregnancies in 15 families at risk for aspartoacylase deficiency. Amniocentesis was at 14–18 weeks gestation followed by measurement of amniotic fluidN-acetyl-l-aspart...
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Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: An inborn error of β-alanine,l-valine andl-alloisoleucine metabolism?
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Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: Possible metabolic markers for the primary defect
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Juvenile neuronal ceroid-lipofuscinosis: Characterization of the dyslipoproteinaemia and demonstration of membrane phospholipid and phospholipid-dependent signal transduction abnormalities in cultured skin fibroblasts