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Öğe ALPHA-GALACTOSIDASE A DEFICIENCY AMONG TURKISH MALE HEMODIALYSIS PATIENTS(Academic Press Inc Elsevier Science, 2009) Ucar, S. Kalkan; Sozmen, E. Yildirim; Duman, S.; Babci, A.; Coker, M.Öğe ALPHA-GALACTOSIDASE A DEFICIENCY AMONG TURKISH MALE HEMODIALYSIS PATIENTS(Academic Press Inc Elsevier Science, 2009) Ucar, S. Kalkan; Sozmen, E. Yildirim; Duman, S.; Babci, A.; Coker, M.Öğe Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: Mutation profile and description of a novel mutation(Elsevier Science Bv, 2013) Aykut, A.; Karaca, E.; Onay, H.; Ucar, S. Kalkan; Coker, M.; Cogulu, O.; Özkınay, FerdaNiemann-Pick disease (NPD) is a lysosomal storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. Niemann-Pick disease type A and B is caused by mutations in the sphingomyelin phosphodiesterase gene (SMPD1) coding for ASM. The aim of this study was to evaluate the spectrum of SMPD1 gene mutations in Turkish NPD patients and to study genotype-phenotype associations. We present a molecular analysis of 10 Turkish NPD type A/B patients. Four of the patients had type A and six had type B NPD. All mutant SMPD1 alleles were identified, including 5 different mutations, 1 of which was novel. These mutations included three missense mutations: c.409T>C (p.L137P), c.1262 A>G (p.H421R) and c.1552T>C (p.L549P), a common frameshift mutation in codon 189, identified in three patients, is caused by the deletion of the 567T, introducing a stop codon 65 amino acids downstream (p.P189fsX65), and a novel frameshift mutation c.1755delC (p.P585PfsX24) which was not reported previously. (C) 2013 Published by Elsevier B.V.Öğe Can cathepsin-D a new inflammation biomarker in detection of lysosomal storage diseases?(Wiley-Blackwell, 2014) Ergun, P.; Kagnici, M.; Ucar, S. K.; Coker, M.; Akcay, Y. D.; Sozmen, E. Y.Öğe A CASE OF LETHAL NEONATAL TYPE CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY WITH R233C MUTATION(Springer, 2010) Ucar, Kalkan S.; Basol, G.; Calkavur, S.; Habif, S.; Bayindir, O.; Coker, M.Öğe Chitotriosidase enzyme activity as a macrophage activation marker in dyslipidemic children(Pergamon-Elsevier Science Ltd, 2011) Kologlu, T.; Uaar, S. K.; Levent, E.; Coker, M.; Akcay, Y. D.; Sazmen, E. Y.Öğe CLINICAL OVERVIEW OF INSULIN RESISTANCE IN PATIENTS WITH TYPE 1 GAUCHER DISEASE(Elsevier, 2008) Ucar, S. Kalkan; Coker, M.; Argin, M.; Kara, S.; Simsek, D. Goksen; Darcan, S.Öğe Clinical, molecular, radiological investigations in patients with SURF1 mutations and muscle biopsy findings(Pergamon-Elsevier Science Ltd, 2016) Kose, M.; Kagnici, M.; Canda, E.; Ucar, S. Kalkan; Diniz, G.; Unalp, A.; Yilmaz, U.; Eraslan, C.; Ceylaner, S.; Taylor, R.; Coker, M.Öğe COAGULATION STATUS IN A PATIENT WITH TYPE 1 GAUCHER DISEASE TREATED WITH ENZYME REPLACEMENT THERAPY FOR 5 YEARS(Elsevier, 2009) Ucar, S. Kalkan; Balkan, C.; Akman, S.; Kavakli, K.; Coker, M.Öğe A coincidence of mucopolysaccharidosis type IIIA and familial hypercholesterolaemia type II A: A case report(Springer, 2006) Kalkan, S.; Coker, M.; van Diggelen, O. P.; Huijmans, J.; Goksen, D.; Darcan, S.Öğe CRANIAL MRI AND MRS FINDINGS IN A CLINICALLY AND LABORATORY WELL CONTROLLED HMG-COA LYASE DEFICIENCY(Academic Press Inc Elsevier Science, 2009) Coker, M.; Ucar, S. Kalkan; Duygulu, G.; Kitis, Oe; Altinok, Y. Atik; Habit, S.Öğe CRANIAL MRI AND MRS FINDINGS IN A CLINICALLY AND LABORATORY WELL CONTROLLED HMG-COA LYASE DEFICIENCY(Academic Press Inc Elsevier Science, 2009) Coker, M.; Ucar, S. Kalkan; Duygulu, G.; Kitis, Oe; Altinok, Y. Atik; Habit, S.Öğe THE EFFECT OF BLUEBERRY ON LIPID PROFILE, LIPID PEROXIDATION AND ANTIOXIDATIVE STATUS IN HETEROZYGOUS HYPERCHOLESTEROLEMIC CHILDREN(Academic Press Inc Elsevier Science, 2009) Ucar, S. Kalkan; Sozmen, E. Yildirim; Yildirim, H. Kalkan; Coker, M.Öğe THE EFFECT OF BLUEBERRY ON LIPID PROFILE, LIPID PEROXIDATION AND ANTIOXIDATIVE STATUS IN HETEROZYGOUS HYPERCHOLESTEROLEMIC CHILDREN(Academic Press Inc Elsevier Science, 2009) Ucar, S. Kalkan; Sozmen, E. Yildirim; Yildirim, H. Kalkan; Coker, M.Öğe EFFICACY AND SAFETY OF SEBELIPASE ALFA IN CHILDREN AND ADULTS WITH LYSOSOMAL ACID LIPASE DEFICIENCY: RESULTS OF A PHASE 3 TRIAL(Elsevier Science Bv, 2015) Rojas-Caro, S.; Baric, I.; Camarena Grande, C.; Coker, M.; Deegan, P.; DiRocco, M.; Ezgu, F. S.; Feillet, F.; Malinova, V.; Mengel, E.; Murphy, E.; Pastor Rosado, J.; Rahman, Y.; Scarpa, M.; Schwab, K. O.; Smolka, V.; Taybert, J.; Valayannopoulos, V.; Yang, Y.; Quinn, A.Öğe EFFICACY AND SAFETY OF SEBELIPASE ALFA IN CHILDREN AND ADULTS WITH LYSOSOMAL ACID LIPASE DEFICIENCY: RESULTS OF A PHASE 3 TRIAL(Elsevier Science Bv, 2015) Rojas-Caro, S.; Baric, I.; Camarena Grande, C.; Coker, M.; Deegan, P.; DiRocco, M.; Ezgu, F. S.; Feillet, F.; Malinova, V.; Mengel, E.; Murphy, E.; Pastor Rosado, J.; Rahman, Y.; Scarpa, M.; Schwab, K. O.; Smolka, V.; Taybert, J.; Valayannopoulos, V.; Yang, Y.; Quinn, A.Öğe EFFICACY AND SAFETY OF SEBELIPASE ALFA IN CHILDREN AND ADULTS WITH LYSOSOMAL ACID LIPASE DEFICIENCY: RESULTS OF A PHASE 3 TRIAL(Elsevier Science Bv, 2015) Rojas-Caro, S.; Baric, I.; Camarena Grande, C.; Coker, M.; Deegan, P.; DiRocco, M.; Ezgu, F. S.; Feillet, F.; Malinova, V.; Mengel, E.; Murphy, E.; Pastor Rosado, J.; Rahman, Y.; Scarpa, M.; Schwab, K. O.; Smolka, V.; Taybert, J.; Valayannopoulos, V.; Yang, Y.; Quinn, A.Öğe ESTABLISHMENT OF REFERENCE INTERVALS FOR FREE CARNITINE AND ACYLCARNITINES FROM BIRTH TO ADULTHOOD: A POSTERIORI SAMPLING APPROACH(Springer, 2010) Basol, G.; Barutcuoglu, B.; Bozdemir, A. E.; Habif, S.; Kabaroglu, C.; Coker, M.; Parildar, Z.; Bayindir, O.Öğe FATTY LIVER AND DYSLIPIDEMIA AS IMPORTANT CLUES FOR DIAGNOSIS OF CHOLESTEROL ESTER STORAGE DISEASE(Springer, 2010) Kalkan, Ucar S.; Church, H.; Savage, W.; Habif, S.; Coker, M.Öğe A five years expirience of LDL-apheresis in pediatric patients with homozygous familial hypercholesterolaemia(Springer, 2007) Coker, M.; Kalkan, Ucar S.; Buyukinan, M.; Goksen, Simsek R. D.; Darcan, S.; Bak, M.; Can, D.; Serdaroglu, E.; Gulle, S.; Ozhan, B.; Can, S.
