Search Results - "GÖKCAY, G"

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters by Hörster, F, Garbade, S. F, Zwickler, T, Aydin, H. I, Bodamer, O. A, Burlina, A. B, Das, A. M, De Klerk, J. B. C, Dionisi-Vici, C, Geb, S, Gökcay, G, Guffon, N, Maier, E. M, Morava, E, Walter, J. H, Schwahn, B, Wijburg, F. A, Lindner, M, Grünewald, S, Baumgartner, M. R, Kölker, S

“…Objectives Isolated methylmalonic acidurias (MMAurias) are caused by deficiency of methylmalonyl-CoA mutase or by defects in the synthesis of its cofactor…”
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A severe form of non-classic Pompe's disease with normal creatinine kinase level by Demirkol, D, Caliskan, M, Gökcay, G, Yanni, D, Citak, A, Oflazer, P S, Karaböcüoğlu, M

“…A 24-month-old boy was referred to our pediatric intensive care unit because of difficulty in weaning from artificial ventilation. He had 2 bronchopneumonia…”
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Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD by van Kuilenburg, A. B. P., Meijer, J., Gökcay, G., Baykal, T., Rubio-Gozalbo, M. E., Mul, A. N. P. M., de Die-Smulders, C. E. M., Weber, P., Mori, A. Capone, Bierau, J., Fowler, B., Macke, K., Sass, J. O., Meinsma, R., Hennermann, J. B., Miny, P., Zoetekouw, L., Roelofsen, J., Vijzelaar, R., Nicolai, J., Hennekam, R. C. M.

“…Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine degradation pathway. In a patient presenting with…”
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Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data by Huemer, M., Bürer, C., Ješina, P., Kožich, V., Landolt, M. A., Suormala, T., Fowler, B., Augoustides- Savvopoulou, P., Blair, E., Brennerova, K., Broomfield, A., De Meirleir, L., Gökcay, G., Hennermann, J., Jardine, P., Koch, J., Lorenzl, S., Lotz-Havla, A. S., Noss, J., Parini, R., Peters, H., Plecko, B., Ramos, F. J., Schlune, A., Tsiakas, K., Zerjav Tansek, M., Baumgartner, M. R.

“…Background The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of…”
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Updated growth curves for Turkish children aged 15 days to 60 months by Gökçay, G., Furman, A., Neyzi, O.

“…Background  Growth reference values are useful in paediatric health care as a health indicator. Secular changes in height for age values are also known to…”
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Erratum to: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters by Hörster, F., Garbade, S. F., Zwickler, T., Aydin, H. I., Bodamer, O. A., Burlina, A. B., Das, A. M., De Klerk, J. B. C., Dionisi-Vici, C., Geb, S., Gökcay, G., Guffon, N., Maier, E. M., Morava, E., Walter, J. H., Schwahn, B., Wijburg, F. A., Lindner, M., Grünewald, S., Baumgartner, M. R., Kölker, S.

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A study on neonatal factors and eruption time of primary teeth by Aktoren, O, Tuna, E B, Guven, Y, Gokcay, G

“…The purpose of this study was to determine the time of the eruption of the first primary tooth (FPT) in infants and to assess the effects of neonatal factors…”
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Breastfeeding: for the sake of the Europe and the world: European Society for Social Pediatrics and Child Health (ESSOP) Position Statement by Goekcay, G

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Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres by Zwickler, T., Lindner, M., Aydin, H. I., Baumgartner, M. R., Bodamer, O. A., Burlina, A. B., Das, A. M., deKlerk, J. B. C., Gökcay, G., Grünewald, S., Guffon, N., Maier, E. M., Morava, E., Geb, S., Schwahn, B., Walter, J. H., Wendel, U., Wijburg, F. A., Müller, E., Kölker, S., Hörster, F.

“…Summary The long-term outcome of patients with methylmalonic aciduria (MMA) is still uncertain due to a high frequency of complications such as chronic renal…”
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Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases by Baykal, T., Gokcay, G., Gokdemir, Y., Demir, F., Seckin, Y., Demirkol, M., Jensen, K., Wolf, B.

“…Summary We report 32 biotinidase‐deficient patients detected by family studies in the index cases. The study group consisted of 10 mothers, 4 fathers and 18…”
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P02-57 Behavioral approach to infantile anorexia and its outcome on maternal psychopathology by Herguner, S, Ozyildirim, I, Gokcay, G

“…Background This study aims to examine the effectiveness of a behavioral approach for the treatment of toddlers with infantile anorexia; and the psychopathology…”
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Strategies for the Prevention of Iron Deficiency Anaemia in Children by Gokcay, G.

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Haemophilus influenzae type b carriage among 3- to 24-month-old Turkish children by POYRAZOGLU, S, KÖMEC, S, GÖKCAY, G, ÖNGEN, B

“…There are few studies from developing countries on the epidemiology of Haemophilus influenzae (Hib) infections among infants and children. We set out to…”
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Consanguineous 3‐methylcrotonyl‐CoA carboxylase deficiency: Early‐onset necrotizing encephalopathy with lethal outcome by Baykal, T., Gokcay, G. Huner, Ince, Z., Dantas, M. F., Fowler, B., Baumgartner, M. R., Demir, F., Can, G., Demirkol, M.

“…Summary A patient with a severe neonatal variant of 3‐methylcrotonyl‐CoA carboxylase (MCC) deficiency is reported. The first child of healthy consanguineous…”
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Breast feeding in organic acidaemias by Gokcay, G., Baykal, T., Gokdemir, Y., Demirkol, M.

“…Summary Breast feeding has been recommended for the dietary treatment of infants with organic acidaemias, but studies documenting clinical experience are still…”
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Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false‐positive newborn screening for biotinidase deficiency by Santer, R., Gokçay, G., Demirkol, M., Gal, A., Lukacs, Z.

“…Summary Two cases of molecular genetically proven lipoprotein lipase deficiency are reported. Both patients were detected owing to a false‐positive neonatal…”
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Social paediatrics by Spencer, Nick, Colomer, Concha, Alperstein, Garth, Bouvier, Paul, Colomer, Julia, Duperrex, Olivier, Gokcay, Gulbin, Julien, Gilles, Kohler, Lennart, Lindström, Bengt, Macfarlane, Aidan, Mercer, Raul, Panagiotopoulos, Takis, Schulpen, Tom

“…Social paediatrics is an approach to child health that focuses on the child, in illness and in health, within the context of their society, environment,…”
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Monitoring of therapy in tyrosinemia type I: Quantification of nitisinone in dried blood spots by Sander, J., Janzen, N., Peter, M., Sander, S., Gökcay, G., Demirkol, M., Das, A.M.

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Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry by Baykal, T., Karaaslan, I., Gokcay, G., Demir, F., Laleli, Y., Demirkol, M.

“…Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was…”
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Ten steps for successful breast-feeding: assessment of hospital performance, its determinants and planning for improvement by Gökçay, G, Uzel, N, Kayatürk, F, Neyzi, O

“…Summary This paper discusses results from a project which aims to document the maternity hospital practices in Istanbul within the context of Ten Steps for…”
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