Search Results - "Sivri, H. Serap Kalkanoglu"

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

“…PURPOSE Although clinical ophthalmologic findings have been reported, no study documented magnetic resonance imaging (MRI) findings in mucop olysa cchar idosi…”
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A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood by Mazlum, Betül, Anlar, Banu, Kalkanoğlu-Sivri, H Serap, Karlı-Oğuz, Kader, Özusta, Şeniz, Ünal, Fatih

“…Phenylketonuria is one of the most prevalent autosomal recessive hereditary disorders in Turkey. If untreated, it results in severe brain damage and can also…”
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Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency by Ostergaard, E., Moller, L. Birk, Kalkanoglu-Sivri, H. Serap, Dursun, A., Kibaek, M., Thelle, T., Christensen, E., Duno, M., Wibrand, F.

“…Summary The pyruvate dehydrogenase (PDH) complex is a mitochondrial multienzyme that catalyses the irreversible oxidative decarboxylation of pyruvate to…”
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Home visits in phenylketonuria: a 12-month longitudinal study by Gökmen-Ozel, Hülya, Büyüktuncer, Zehra, Köksal, Gülden, Kalkanoğlu-Sivri, H Serap, Coşkun, Turgay

“…This study aimed to evaluate the effect of dietary education given to the caregivers of children with phenylketonuria (PKU) in their home environment on…”
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Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks by Unal, Ozlem, Ozgen, Burce, Orhan, Diclehan, Tokatli, Aysegul, Hismi, Burcu Ozturk, Dursun, Ali, Coskun, Turgay, Kalkanoglu-Sivri, H. Serap

“…Vanishing white matter disease is one of the most prevalent leukodystrophies in childhood. It is caused by mutations in any of the genes encoding the 5…”
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Molecular genetics of maple syrup urine disease in the Turkish population by Gorzelany, Kerstin, Dursun, Ali, Coşkun, Turgay, Kalkanoğlu-Sivri, Serap H, Gökçay, Gülden Fatma, Demirkol, Mübeccel, Feyen, Oliver, Wendel, Udo

“…In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1alpha, E1beta and E2 subunits of…”
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A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy by Unal, Ozlem, Orhan, Diclehan, Ostergaard, Elsebet, Tokatli, Aysegul, Dursun, Ali, Ozturk-Hismi, Burcu, Coskun, Turgay, Wibrand, Flemming, Kalkanoglu-Sivri, H. Serap

“…Nemaline rods are the pathologic hallmark of nemaline myopathy, but they have also been described as a secondary phenomenon in a variety of other disorders…”
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Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient by Tokatli, Ayşegül, Kalkanoğlu-Sivri, H Serap, Yüce, Aysel, Coşkun, Turgay

“…We report a patient with glutathione synthetase (GS) deficiency who developed acetaminophen-induced hepatotoxicity after a two-day treatment with regular doses…”
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Inspiratory muscle training in Morquio's syndrome: A case study by Savci, Sema, Ozturk, Melda, Inal‐Ince, Deniz, Gultekin, Zuhal, Arikan, Hulya, Sivri, H. Serap Kalkanoglu

“…We reported a case of MPS IV A presented with dyspnea on exertion and respiratory muscle weakness. The patient underwent inspiratory muscle training (IMT)…”
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Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency by Ostergaard, Elsebet, Duno, Morten, Møller, Lisbeth Birk, Kalkanoglu-Sivri, H. Serap, Dursun, Ali, Aliefendioglu, Didem, Leth, Helle, Dahl, Marianne, Christensen, Ernst, Wibrand, Flemming

“…We have investigated seven patients with the type B form of pyruvate carboxylase (PC) deficiency. Mutation analysis revealed eight mutations, all novel. In a…”
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Inspiratory muscle training in Morquio's syndrome: A case study by Savci, Sema, Ozturk, Melda, Inal-Ince, Deniz, Gultekin, Zuhal, Arikan, Hulya, Sivri, H. Serap Kalkanoglu

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