Search Results - "Staretz‐Chacham, O."

Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations by Shahrour, M.A., Staretz‐Chacham, O., Dayan, D., Stephen, J., Weech, A., Damseh, N., Pri Chen, H., Edvardson, S., Mazaheri, S., Saada, A., Hershkovitz, E., Shaag, A., Huizing, M., Abu‐Libdeh, B., Gahl, W.A, Azem, A., Anikster, Y., Vilboux, T., Elpeleg, O., Malicdan, M.C.

“…Mitochondrial encephalopathies are a heterogeneous group of disorders that, usually carry grave prognosis. Recently a homozygous mutation, Gly372Ser, in the…”
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Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communities by Hazan, G, Hershkovitz, E, Staretz-Chacham, O

“…Inherited metabolic disorders (IMDs) are group of rare monogenic diseases, usually derived from reduced or absent activity in a single metabolic pathway. Most…”
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Familial factor VII deficiency with foetal and neonatal fatal cerebral haemorrhage associated with homozygosis to Gly180Arg mutation by LANDAU, D., ROSENBERG, N., ZIVELIN, A., STARETZ-CHACHAM, O., KAPELUSHNIK, J.

“…Inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder with a wide heterogeneous clinical pattern. Intracranial haemorrhage in infants…”
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Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model by Madhavarao, C. N, Arun, P, Anikster, Y, Mog, S. R, Staretz-Chacham, O, Moffett, J. R, Grunberg, N. E, Gahl, W. A, Namboodiri, A. M. A

“…Canavan disease (CD) is a fatal dysmyelinating genetic disorder associated with aspartoacylase deficiency, resulting in decreased brain acetate levels and…”
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Update on safety and efficacy results for phase I/II trial of hydroxypropyl betacyclodextrin (HPâCD) administered intravenously in patients with Niemann-Pick disease type C1 by Raiman, Julian A.J., Sharma, Reena, Paucar, Martin, Staretz-Chacham, Orna, Spiegel, Ronen, Boyd, Alan, Hastings, Caroline, Hrynkow, Sharon H.

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Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial by Sharma, Reena, Hastings, Caroline, Staretz-Chacham, Orna, Raiman, Julian, Paucar, Martin, Spiegel, Ronen, Murray, Bryan, Hurst, Bryan, Liu, Benny, Kjems, Lise, Hrynkow, Sharon

“…Niemann-Pick disease type C (NPC) is a rare, fatal, pan-ethnic, autosomal recessive lysosomal storage disease characterized by progressive major organ failure…”
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Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model: Neurological manifestations of IEM in children, dedicated to Robert Surtees by MADHAVARAO, C. N, ARUN, P, ANIKSTER, Y, MOG, S. R, STARETZ-CHACHAM, O, MOFFETT, J. R, GRUNBERG, N. E, GAHL, W. A, NAMBOODIRI, A. M. A

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