Search Results - "Ficicioglu, C."

The protective effect of Coenzyme Q10 supplementation on decreased ovarian reserve in female Sprague-Dawley rats by Ozcan, P, Ficicioglu, C, Yesiladali, M

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Argininosuccinate lyase deficiency: Longterm outcome of 13 patients detected by newborn screening by Ficicioglu, C., Mandell, R., Shih, V.E.

“…Argininosuccinate lyase deficiency is a urea cycle disorder which can present in the neonatal period with hyperammonemic encephalopathy, or later in childhood…”
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Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase by Dimmock, D.P, Zhang, Q, Dionisi-Vici, C, Carrozzo, R, Shieh, J, Tang, L.Y, Truong, C, Schmitt, E, Sifry-Platt, M, Lucioli, S, Santorelli, F.M, Ficicioglu, C.H, Rodriguez, M, Wierenga, K, Enns, G.M, Longo, N, Lipson, M.H, Vallance, H, Craigen, W.J, Scaglia, F, Wong, L.J

“…Published mutations in deoxyguanosine kinase (DGUOK) cause mitochondrial DNA depletion and a clinical phenotype that consists of neonatal liver failure,…”
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FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome by Dai, H., Zhang, V.W., El‐Hattab, A.W., Ficicioglu, C., Shinawi, M., Lines, M., Schulze, A., McNutt, M., Gotway, G., Tian, X., Chen, S., Wang, J., Craigen, W.J., Wong, L.‐J.

“…Mutations in FBXL4 have recently been recognized to cause a mitochondrial disorder, with clinical features including early onset lactic acidosis, hypotonia,…”
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The role of anti-mullerian hormone to predict ovarian reserve and in vitro fertilisation success by Ficicioglu, C, Ozcan Cenksoy, P, Yildirim, G, Kaspar, C

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Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency by Campbell, C D, Ganesh, J, Ficicioglu, C

“…Vitamin B12 deficiency causes decreased Methionine Synthase and L-Methylmalonyl-CoA Mutase activity and results in accumulation of Homocysteine, Methylmalonic…”
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The predictive value of anti-mullerian hormone on embryo quality following in vitro fertilization by Alagöz, O, Attar, R, Yildirim, G, Cenksoy, P, Yesiladali, M, Ficicioglu, C

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The importance of distances parameters at the embryo transfer techniques as a determinant on pregnancy rate in in vitro fertilization cycles by Ozcan Cenksoy, P, Ficicioglu, C, Yesiladali, M, Alagoz Akcin, O, Kaspar, C

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The positive effect of proximal tubal occlusion on in vitro fertilization outcomes in women with hydrosalpinx: an eligible alternative in-vitro fertilisation outcome-enhancing surgery by Ozcan Cenksoy, P, Ficicioglu, C, Kizilkale, O, Bostanci, M.S, Bakacak, M, Kaspar, C

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The effects of different doses of melatonin on endometriotic lesions in an ooferectomized rat endometriosis model by Cetinkaya, N, Attar, R, Yildirim, G, Ozkan, F, Ficicioglu, C, Yesildaglar, N

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Very long-chain acyl-CoA dehydrogenase deficiency: The effects of accidental fat loading in a patient detected through newborn screening by Ficicioglu, C., Hussa, C.

“…Summary Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is an autosomal recessive disorder of fatty acid oxidation. The majority of patients with…”
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry by Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A, Seifert, Burkhardt, Froese, D Sean, Baumgartner, Matthias R, Dionisi-Vici, Carlo, Alcalde Martin, C, Baethmann, M, Ballhausen, D, Blasco-Alonso, J, Boy, N, Bueno, M, Burgos Peláez, R, Cerone, R, Chabrol, B, Chapman, K A, Couce, M L, Crushell, E, Dalmau Serra, J, Diogo, L, Ficicioglu, C, García Jimenez, M C, García Silva, M T, Gaspar, A M, Gautschi, M, González-Lamuño, D, Gouveia, S, Grünewald, S, Hendriksz, C, Janssen, M C H, Jesina, P, Koch, J, Konstantopoulou, V, Lavigne, C, Lund, A M, Martins, E G, Meavilla Olivas, S, Mention, K, Mochel, F, Mundy, H, Murphy, E, Paquay, S, Pedrón-Giner, C, Ruiz Gómez, M A, Santra, S, Schiff, M, Schwartz, I V, Scholl-Bürgi, S, Servais, A, Skouma, A, Tran, C, Vives Piñera, I, Walter, J, Weisfeld-Adams, J

“…To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and…”
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Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis by Bhoj, E. J., Li, M., Ahrens-Nicklas, R., Pyle, L. C., Wang, J., Zhang, V. W., Clarke, C., Wong, L. J., Sondheimer, N., Ficicioglu, C., Yudkoff, M.

“…Variants in the SLC25A3 gene, which codes for the mitochondrial phosphate transporter (PiC), lead to a failure of inorganic phosphate (Pi) transport across the…”
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Mutations of the E1β subunit gene ( PDHB) in four families with pyruvate dehydrogenase deficiency by Okajima, K., Korotchkina, L.G., Prasad, C., Rupar, T., Phillips, J.A., Ficicioglu, C., Hertecant, J., Patel, M.S., Kerr, D.S.

“…Pyruvate dehydrogenase complex (PDC) deficiencies are a major cause of primary lactic acidosis. Most cases result from mutations of the gene for the pyruvate…”
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The comparision of reproductive outcome of the women with hypogonadotropic hypogonadism and tubal factor infertility by Yildirim, G, Ficicioglu, C, Akcin, O, Attar, R, Tecellioglu, N

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Comparision of reproductive outcome of the women with hypogonadotropic hypogonadism and tubal factor infertility by Yildirim, G, Ficicioglu, C, Attar, R, Akcin, O, Tecellioglu, N

“…To evaluate the outcome of women with hypogonadotropic hypogonadism (HH) undergoing in-vitro fertilization (IVF). Data from 13 cycles often hypogonadotropic…”
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FDG-PET findings in patients with galactosaemia by Dubroff, J. G., Ficicioglu, C., Segal, S., Wintering, N. A., Alavi, A., Newberg, A. B.

“…Summary Despite treatment with a galactose-restricted diet, many galactosaemia patients develop lifelong cognitive impairment, speech abnormalities and a gamut…”
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Cytokine and nitric oxide concentrations in follicular fluid and blood serum of patients undergoing assisted reproductive treatment: relationship to outcome by Kumbak, B, Akcin, O, Attar, R, Yildirim, G, Tecellioglu, N, Ficicioglu, C

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Psychological status of husbands and wives during the treatment in couples undergoing assisted reproductive treatment in Turkey by Kumbak, B, Erdem Atak, I, Attar, R, Yildirim, G, Yesildaglar, N, Ficicioglu, C

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Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years’ Experience by Chadwick, S, Fitzgerald, K, Weiss, B, Ficicioglu, C

“…Background: Methionine adenosyltransferase I/III (MATI/III) deficiency is the most common genetic cause of persistent isolated hypermethioninemia. Patients and…”
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