Inborn Errors Of Metabolism
Mostrando 37-48 de 61 artigos, teses e dissertações.
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37. A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK.
OBJECTIVE: To assess birth and gene frequencies of specific autosomal recessively inborn errors of metabolism (IEM) within different ethnic groups. DESIGN: Retrospective study in a regional centre for investigation and treatment of IEM. SUBJECTS: All children born within the West Midlands NHS Region, UK, during the decade immediately preceding the 1991 Natio
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38. Hepatocyte gene therapy in a large animal: A neonatal bovine model of citrullinemia
The development of gene-replacement therapy for inborn errors of metabolism has been hindered by the limited number of suitable large-animal models of these diseases and by inadequate methods of assessing the efficacy of treatment. Such methods should provide sensitive detection of expression in vivo and should be unaffected by concurrent pharmacologic and d
The National Academy of Sciences.
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39. Identification of 3-methylglutarylcarnitine. A new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A (CoA) lyase affects the metabolism of leucine as well as ketogenesis. This disorder is one of an increasing list of inborn errors of metabolism that presents clinically like Reye's Syndrome or nonketotic hypoglycemia. Four patients with proven 3-hydroxy-3-methylglutaryl-CoA lyase deficiency were shown to ex
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40. Purinogenic immunodeficiency diseases: selective toxicity of deoxyribonucleosides for T cells.
Deoxyadenosine at low concentrations and in the presence of an inhibitor of adenosine deaminase (adenosine aminohydrolase, EC 3.5.4.4) is markedly toxic to lymphoblast cell lines of T cell origin but does not impair growth of B cell lines. Deoxyguanosine is also more toxic for T lymphoblasts. In the presence of deoxyadenosine or deoxyguanosine, elevation of
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41. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.
Thyroid peroxidase (TPO) is the key enzyme in the synthesis of thyroid hormones, and the TPO defects are believed to be the most prevalent causes of the inborn errors of thyroid metabolism. We investigated an adopted boy with iodide organification defect, who presented with florid hypothyroidism at the age of 4 mo, poorly complied with thyroxine treatment, a
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42. Dysmorphic syndromes with demonstrable biochemical abnormalities.
Many inborn errors of metabolism are associated with dysmorphic manifestations. In this review, we have attempted to correlate the dysmorphic features with the underlying metabolic defect or its consequences. Most of the defects which we have discussed affect the synthesis or degradation of macromolecules (for example, collagen, elastin, bone mineral, proteo
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43. Value of serum C-reactive protein measurement in the management of bone marrow transplant recipients. Part I: Early transplant period.
Serum C-reactive protein concentrations were measured serially during the early transplant period in 68 bone marrow recipients transplanted for leukaemia (34), chronic granulocytic leukaemia (2), severe aplastic anaemia (6), and various inborn errors of metabolism (26). There were 116 clearly documented episodes of infection or acute graft versus host diseas
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44. Genetic Variation in Activity of the Enzymes of Glycolysis and Gluconeogenesis between Inbred Strains of Mice
Variation in the activity of 21 liver and 15 erythrocyte enzymes between seven inbred strains of mice has been studied in a single area of metabolism, glycolysis and gluconeogenesis. Most of the variation between the strains is genetic. From the variation within and between inbred strains heritabilities (H2) were determined. Out of 35, 26 showed significant
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45. Degradation of cationized low density lipoprotein and regulation of cholesterol metabolism in homozygous familial hypercholesterolemia fibroblasts.
Cultured fibroblasts derived from patients with homozygous familial hypercholesterolemia, which lack functional low density lipoprotein (LDL) receptors, fail to bind, take up, or degrade the lipoprotein with high affinity; therefore LDL-cholesterol is not made available for suppression of cholesterol synthesis or activation of cholesteryl ester formation. Wh
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46. Opsonic Defect in Patients with Cystic Fibrosis of the Pancreas
Cystic fibrosis of the pancreas is one of the most common inborn errors of metabolism. The high incidence of morbidity and mortality in these patients is primarily due to severe and frequent pulmonary infection. To date, no immune deficiency has been found in cystic fibrosis patients. Their sera contain normal quantities of immunoglobulins and hemolytic comp
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47. Gametocytocidal Activity and Synergistic Interactions of Riboflavin with Standard Antimalarial Drugs against Growth of Plasmodium falciparum In Vitro
Our previous studies have shown that riboflavin has activity against Plasmodium falciparum asexual-stage parasites in vitro. In the present study we examine the gametocytocidal activity of riboflavin and the interaction of riboflavin with some commonly used antimalarial drugs against the asexual forms of P. falciparum in vitro. The addition of riboflavin to
American Society for Microbiology.
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48. Molecular studies of deletions at the human steroid sulfatase locus.
The human steroid sulfatase gene (STS) is located on the distal X chromosome short arm close to the pseudoautosomal region but in a segment of DNA that is unique to the X chromosome. In contrast to most X chromosome-encoded genes, STS expression is not extinguished during the process of X chromosome inactivation. Deficiency of STS (steryl-sulfatase; steryl-s