Search Results - "Boneh, A"

Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia by Abacan, M., Boneh, A.

“…Propionic acidaemia (PA) results from propionyl-CoA carboxylase deficiency. During metabolic decompensation, the accumulation of propionyl-CoA causes secondary…”
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Regulation of mitochondrial oxidative phosphorylation by second messenger-mediated signal transduction mechanisms by Boneh, A

“…The mitochondrial oxidative phosphorylation system is responsible for providing the bulk of cellular ATP molecules. There is a growing body of information…”
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Malignant brain tumors in patients with glutaric aciduria type I by Serrano Russi, A., Donoghue, S., Boneh, A., Manara, R., Burlina, A.B., Burlina, A.P.

“…Three young patients with glutaric aciduria type I (age 6–23 years) of different ethnic origins, treated for their metabolic disease since early childhood,…”
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Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling by Lopes Costa, Alexandra, Le Bachelier, Carole, Mathieu, Lise, Rotig, Agnès, Boneh, Avihu, De Lonlay, Pascale, Tarnopolsky, Mark A, Thorburn, David R, Bastin, Jean, Djouadi, Fatima

“…Mitochondrial respiratory chain (RC) disorders are the most prevalent inborn metabolic diseases and remain without effective treatment to date. Up-regulation…”
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Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening by Barends, M., Pitt, J., Morrissy, S., Tzanakos, N., Boneh, A.

“…In recent years it has become clear that newborn screening (NBS) programmes using tandem mass spectrometry identify “patients” with “classical” inborn errors…”
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Diagnostic criteria for respiratory chain disorders in adults and children by BERNIER, F. P, BONEH, A, DENNETT, X, CHOW, C. W, CLEARY, M. A, THORBURN, D. R

“…Respiratory chain (RC) disorders are clinically, biochemically, and molecularly heterogeneous. The lack of standardized diagnostic criteria poses difficulties…”
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Cardiac Manifestations in Oxidative Phosphorylation Disorders of Childhood by Yaplito-Lee, J., MD, Weintraub, R., MBBS, Jamsen, K., BSc(Math), Chow, C.W., MBBS, Thorburn, D.R., PhD, Boneh, A., MD, PhD

“…Objective To determine the frequency, type, and severity of cardiac involvement in pediatric patients with oxidative phosphorylation (OXPHOS) disorders. Study…”
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VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis by Boneh, A., Andresen, B.S., Gregersen, N., Ibrahim, M., Tzanakos, N., Peters, H., Yaplito-Lee, J., Pitt, J.J.

“…We diagnosed six newborn babies with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) through newborn screening in three years in Victoria…”
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How practical are recommendations for dietary control in phenylketonuria? by Walter, JH, White, FJ, Hall, SK, MacDonald, A, Rylance, G, Boneh, A, Francis, DE, Shortland, GJ, Schmidt, M, Vail, A

“…In patients with phenylketonuria, blood phenylalanine concentration during childhood is the major determinant of cognitive outcome. Guidelines provide…”
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Cognitive, behavioural and adaptive profiles of children with glutaric aciduria type I detected through newborn screening by Beauchamp, M. H., Boneh, A., Anderson, V.

“…Summary Background: Glutaric aciduria type I (GA I) is an autosomal recessive disorder of lysine and tryptophan metabolism due to a deficiency in glutaryl-CoA…”
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Cognitive and social profiles in two patients with cobalamin C disease by Beauchamp, M. H., Anderson, V., Boneh, A.

“…Summary Cobalamin C (cblC) disease, an inborn error of vitamin B 12 metabolism, results in neurometabolic, neurochemical and neuroanatomical changes. Little is…”
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The impact of galactosaemia on quality of life—A pilot study by Lambert, C., Boneh, A.

“…Galactosaemia (galactose‐1‐phosphate uridyltransferase deficiency) is a pan‐ethnic autosomal recessive disorder of galactose metabolism, with an estimated…”
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Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases by Hui, Joannie, Kirby, Denise M, Thorburn, David R, Boneh, Avihu

“…The aim of this study was to illustrate the difficulties in establishing a diagnosis of mitochondrial respiratory chain (MRC) disorders based on clinical…”
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Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation by Rodney, S., Boneh, A.

“…Urea cycle disorders (UCDs) result from inherited defects in the ammonia detoxification pathway, leading to episodes of hyperammonaemia and encephalopathy. The…”
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Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia by Boneh, A., Allan, S., Mendelson, D., Spriggs, M., Gillam, L.H., Korman, S.H.

“…Non-ketotic hyperglycinaemia (NKH) is a devastating neurometabolic disorder leading, in its classical form, to early death or severe disability and poor…”
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Pamidronate treatment improves bone mineral density in children with Menkes disease by Kanumakala, S., Boneh, A., Zacharin, M.

“…Menkes disease is a severe multisystem disorder due to defective bioavailability and transport of copper at the cellular level. Deficient activity of lysyl…”
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Effect of high‐dose vitamins, coenzyme Q and high‐fat diet in paediatric patients with mitochondrial diseases by Panetta, J., Smith, L. J., Boneh, A.

“…We reviewed the medical records of all patients with confirmed mitochondrial diseases treated with any or all of thiamin, riboflavin, coenzyme Q, vitamin C…”
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The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain disease by Panetta, J, Gibson, K, Kirby, D M, Thorburn, D R, Boneh, A

“…The diagnosis of mitochondrial respiratory chain deficiency is usually made by analysis of mitochondrial respiratory chain activity in muscle biopsy. We…”
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Methylcrotonyl‐CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult by Boneh, A., Baumgartner, M., Hayman, M., Peters, H.

“…Summary We present a patient with methylcrotonyl‐CoA carboxylase (MCC) deficiency (McKusick 210200) who suffered from severe muscle pain and physical…”
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Protein kinase C activity, phosphate uptake and endogenous substrate phosphorylation are altered in Zellweger syndrome by Boneh, A.

“…Summary Protein kinase C (PKC) is a key enzyme in lipid‐mediated signal transduction. Regulation of PKC activation is dependent upon the phospholipid…”
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