Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI von Yavuz, Ozlem Ozkale, Ayaz, Ercan, Yildiz, Yilmaz, Karaosmanoglu, Ayca Akgoz, Bulut, Elif, Sivri, H. Serap Kalkanoglu, Oguz, Kader K

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A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood von Mazlum, Betül, Anlar, Banu, Kalkanoğlu-Sivri, H Serap, Karlı-Oğuz, Kader, Özusta, Şeniz, Ünal, Fatih

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Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency von Ostergaard, E., Moller, L. Birk, Kalkanoglu-Sivri, H. Serap, Dursun, A., Kibaek, M., Thelle, T., Christensen, E., Duno, M., Wibrand, F.

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Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients von Gao, Hong-Zhi, Kobayashi, Keiko, Tabata, Ayako, Tsuge, Hideaki, Iijima, Mikio, Yasuda, Tomotsugu, Kalkanoglu, H. Serap, Dursun, Ali, Tokatli, Aysegul, Coskun, Turgay, Trefz, Friedrich K., Skladal, Daniela, Mandel, Hanna, Seidel, Joerg, Kodama, Soichi, Shirane, Seiko, Ichida, Takafumi, Makino, Shigeru, Yoshino, Makoto, Kang, Jong-Hon, Mizuguchi, Masashi, Barshop, Bruce A., Fuchinoue, Shohei, Seneca, Sara, Zeesman, Susan, Knerr, Ina, Rodés, Margarita, Wasant, Pornswan, Yoshida, Ichiro, De Meirleir, Linda, Abdul Jalil, Md, Begum, Laila, Horiuchi, Masahisa, Katunuma, Nobuhiko, Nakagawa, Shiro, Saheki, Takeyori

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Natural history, outcome, and treatment efficacy in children and adults with glutaryl-Coa dehydrogenase deficiency von KÖLKER, Stefan, GARBADE, Sven F, TRONCOSO, Monica, WILLIAMS, Monique, WALTER, John H, CAMPISTOL, Jaume, MARTI-HERRERO, Milagros, CASWILL, Melissa, BURLINA, Alberto B, LAGLER, Florian, MAIER, Esther M, SCHWAHN, Bernd, GREENBERG, Cheryl R, TOKATLI, Aysegul, DURSUN, Ali, COSKUN, Turgay, CHALMERS, Ronald A, KOELLER, David M, ZSCHOCKE, Johannes, CHRISTENSEN, Ernst, BURGARD, Peter, HOFFMANN, Georg F, LEONARD, James V, SAUDUBRAY, Jean-Marie, RIBES, Antonia, KALKANOGLU, H. Serap, LUND, Allan M, MERINERO, Begona, WAJNER, Moacir

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Home visits in phenylketonuria: a 12-month longitudinal study von Gökmen-Ozel, Hülya, Büyüktuncer, Zehra, Köksal, Gülden, Kalkanoğlu-Sivri, H Serap, Coşkun, Turgay

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The molecular basis of familial hypercholesterolaemia in Turkish patients von Sözen, M. Mert, Whittall, Ros, Öner, Cihan, Tokatlı, Ayşegül, Kalkanoğlu, H. Serap, Dursun, Ali, Coşkun, Turgay, Öner, Reyhan, Humphries, Steve E.

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Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks von Unal, Ozlem, Ozgen, Burce, Orhan, Diclehan, Tokatli, Aysegul, Hismi, Burcu Ozturk, Dursun, Ali, Coskun, Turgay, Kalkanoglu-Sivri, H. Serap

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A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy von Unal, Ozlem, Orhan, Diclehan, Ostergaard, Elsebet, Tokatli, Aysegul, Dursun, Ali, Ozturk-Hismi, Burcu, Coskun, Turgay, Wibrand, Flemming, Kalkanoglu-Sivri, H. Serap

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Focal segmental glomerulosclerosis associated with mitochondrial cytopathy: report of two cases with special emphasis on podocytes von Güçer, Safak, Talim, Beril, Aşan, Esin, Korkusuz, Petek, Ozen, Seza, Unal, Sule, Kalkanoğlu, Serap H, Kale, Gülsev, Cağlar, Melda

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Molecular genetics of maple syrup urine disease in the Turkish population von Gorzelany, Kerstin, Dursun, Ali, Coşkun, Turgay, Kalkanoğlu-Sivri, Serap H, Gökçay, Gülden Fatma, Demirkol, Mübeccel, Feyen, Oliver, Wendel, Udo

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Inspiratory muscle training in Morquio's syndrome: A case study von Savci, Sema, Ozturk, Melda, Inal‐Ince, Deniz, Gultekin, Zuhal, Arikan, Hulya, Sivri, H. Serap Kalkanoglu

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Phenylketonuria and cystic fibrosis in the same patient von Kalkanoğlu, H S, Anadol, D, Yilmaz, E, Coşkun, T

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Four-Month-Old Infant With Focal Segmental Glomerulosclerosis and Mitochondrial DNA Deletion von Unal, Sule, Serap Kalkanoğlu, H., Kocaefe, Cetin, Gucer, Safak, Ozen, Seza, Turanlt, Guzide, Coskun, Turgay

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Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient von Tokatli, Ayşegül, Kalkanoğlu-Sivri, H Serap, Yüce, Aysel, Coşkun, Turgay

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Permanent Transfemoral Pacemaker Implantation in a Child with Maroteaux Lamy Syndrome von DILBER, EMBIYA, CELIKER, ALPAY, KARAGÖZ, TEVFIK, KALKANOĞLU, H. SERAP

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A Boy With Spastic Paraparesis and Dyspnea von Kalkanoglu, H. Serap, Dursun, Ali, Tokatli, Aysegül, Coskun, Turgay, Karasimav, Defne, Topaloglu, Haluk

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Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria von Kalkanoğlu, H. Serap, Ahring, Kirsten K., Sertkaya, Durdu, Birk Møller, Lisbeth, Romstad, Anne, Mikkelsen, Ingrid, Guldberg, Per, Lou, Hans C., Güttler, Flemming

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Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE) von ROMSTAD, Anne, KALKANOGLU, H. Serap, COSKUN, Turgay, DEMIRKOL, Mübeccel, TOKATLI, Aysegül, DURSUN, Ali, BAYKAL, Tolunay, ÖZALP, Imran, GULDBERG, Per, GÜTTLER, Flemming

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Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis von Serap Kalkanoğlu, H., Romstad, Anne, Coşkun, Turgay, Güttler, Flemming

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