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1

LC-MS/MS measurement of leukocyte cystine; effect of preanalytic factors

Canbay, Erhan, Sezer, Ebru Demirel, Uçar, Sema Kalkan, Çoker, Mahmut, Sözmen, Eser Yıldırım

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2019

2

An association among iron, copper, zinc, and selenium, and antioxidative status in dyslipidemic pediatric patients with glycogen storage disease types IA and III

Sema Kalkan Ucar, Mahmut Coker, Eser Sözmen, Damla Goksen Simsek, Sukran Darcan

Journal:

Journal of Trace Elements in Medicine and Biology

Année:

2010

Langue:

english

Fichier:

PDF, 145 KB

english, 2010

3

Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency

Sema Kalkan Ucar, Özge Altun Koroğlu, Ömer Berk, Mehmet Yalaz, Nilgün Kültürsay, Henk J. Blom, Mahmut Coker

Journal:

European Journal of Pediatrics

Année:

2010

Langue:

english

Fichier:

PDF, 79 KB

english, 2010

4

The first use of N-carbamylglutamate in a patient with decompensated maple syrup urine disease

Sema Kalkan Ucar, Mahmut Coker, Sara Habif, Eylem Ulas Saz, Bulent Karapinar, Hakan Ucar, Omer Kitis, Marinus Duran

Journal:

Metabolic Brain Disease

Année:

2009

Langue:

english

Fichier:

PDF, 185 KB

english, 2009

5

Low Density Lipoprotein Apheresis in Pediatric Patients With Homozygous Familial Hypercholesterolemia

Mahmut Coker, Sema Kalkan Ucar, Damla Goksen Simsek, Sukran Darcan, Mustafa Bak, Sule Can

Journal:

Therapeutic Apheresis and Dialysis

Année:

2009

Langue:

english

Fichier:

PDF, 253 KB

english, 2009

6

Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status

Sema Kalkan Ucar, Burcu Ozbaran, Nagehan Demiral, Zeki Yuncu, Serpil Erermis, Mahmut Coker

Journal:

Brain and Development

Année:

2010

Langue:

english

Fichier:

PDF, 191 KB

english, 2010

7

A cross-sectional, mono-centric pilot study of insulin resistance in enzyme replacement therapy patients with Gaucher type I without overweight

Sema Kalkan Ucar, Mahmut Coker, Mehmet Argin, Sezin Akman, Sinan Kara, Damla Goksen Simsek, Sukran Darcan

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 146 KB

english, 2009

8

Alpha-Galactosidase A Activity Levels in Turkish Male Hemodialysis Patients

Sema Kalkan Uçar, Eser Sozmen, Soner Duman, Ali Başçi, Mahmut Çoker

Journal:

Therapeutic Apheresis and Dialysis

Année:

2012

Langue:

english

Fichier:

PDF, 311 KB

english, 2012

9

Diagnostic tools of metabolic and structural brain disturbances in neonatal non-ketotic hyperglycinemia

Demet Terek, Ozge Altun Koroglu, Sezgin Gunes, Mehmet Yalaz, Mete Akisu, Sema Kalkan Uçar, Sarenur Gokben, Mahmut Çoker, Nilgün Kultursay

Journal:

Pediatrics International

Année:

2012

Langue:

english

Fichier:

PDF, 747 KB

english, 2012

10

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Schreml, Julia, Durmaz, Burak, Cogulu, Ozgur, Keupp, Katharina, Beleggia, Filippo, Pohl, Esther, Milz, Esther, Coker, Mahmut, Ucar, Sema Kalkan, Nürnberg, Gudrun, Nürnberg, Peter, Kuhn, Joachim, Ozkin

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 718 KB

english, 2014

11

Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation

Durmaz, Asude, Atik, Tahir, Onay, Hüseyin, Canda, Ebru Erbaş, Uçar, Sema Kalkan, Bademkıran, Fikret, Çoker, Mahmut, Çoğulu, Özgür, Özkınay, Ferda

Journal:

Metabolic Brain Disease

Année:

2014

Langue:

english

Fichier:

PDF, 597 KB

english, 2014

12

Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey

Okubo, Minoru, Ucar, Sema Kalkan, Podskarbi, Teodor, Murase, Toshio, Shin, Yoon S., Coker, Mahmut

Journal:

Clinica Chimica Acta

Année:

2015

Langue:

english

Fichier:

PDF, 896 KB

english, 2015

13

Chitotriosidase as a possible marker of clinically evidenced atherosclerosis in dyslipidemic children

Kologlu, Turan, Ucar, Sema Kalkan, Levent, Erturk, Akcay, Yasemin Delen, Coker, Mahmut, Sozmen, Eser Yıldırım

Journal:

Journal of Pediatric Endocrinology and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 840 KB

english, 2014

14

Can cathepsin-D and galectin-3 be new inflammation biomarkers in detection of lysosomal diseases?

Ergun, Pelin, Kagnici, Mehtap, Ucar, Sema Kalkan, Coker, Mahmut, Akcay, Yasemin Delen, Sozmen, Eser Yildirim

Journal:

Molecular Genetics and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 45 KB

english, 2015

15

Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency

Özen, Samim, Özcan, Nurhan, Uçar, Sema Kalkan, Gökşen, Damla, Darcan, Şükran

Journal:

Journal of Pediatric Endocrinology and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 973 KB

english, 2015

16

Ethinyl Estradiol Treatment for Growth Limitation in Girls with Marfan's Syndrome—Experience from a Single Center

Ucar, Sema Kalkan, Paterson, Wendy F., Donaldson, Malcolm D.C., Young, David

Journal:

Endocrine Research

Année:

2009

Langue:

english

Fichier:

PDF, 122 KB

english, 2009

17

Leukocyte cell surface antigens in Gaucher disease: New implications for B-cell proliferation and pathogenesis of myelomatosis

Sozmen, Eser Y., Dondurmaci, Meral, Ucar, Sema Kalkan, Sagin, Ferhan Girgin, Coker, Mahmut

Journal:

Molecular Genetics and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 50 KB

english, 2015

18

Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome

Wortmann, Saskia, van Hasselt, Peter, Barić, Ivo, Burlina, Alberto, Darin, Niklas, Hörster, Friederike, Coker, Mahmut, Kalkan Ucar, Sema, Krumina, Zita, Naess, Karin, Ngu, Lock, Pronicka, Ewa, Riordan

Journal:

Neuropediatrics

Année:

2015

Langue:

english

Fichier:

PDF, 364 KB

english, 2015

19

Effect of blueberry tea on lipid and antioxidant status in children with heterozygous familial hypercholesterolemia: pilot study

Ucar, Sema Kalkan, Sözmen, Eser, Yıldırım, Hatice Kalkan, Coker, Mahmut

Journal:

Clinical Lipidology

Année:

2014

Langue:

english

Fichier:

PDF, 981 KB

english, 2014

20

[JIMD Reports] || Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

Ucar, Sema Kalkan

Année:

2016

Langue:

english

Fichier:

PDF, 347 KB

english, 2016

21

Patients with Gaucher type 1: Switching from imiglucerase to miglustat therapy

Canda, Ebru, Kose, Melis, Kagnici, Mehtap, Ucar, Sema Kalkan, Sozmen, Eser Y., Coker, Mahmut

Journal:

Blood Cells, Molecules, and Diseases

Année:

2017

Langue:

english

Fichier:

PDF, 543 KB

english, 2017

22

A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency

Yilmaz, Sanem, Serin, Mine, Canda, Ebru, Eraslan, Cenk, Tekin, Hande, Ucar, Sema Kalkan, Gokben, Sarenur, Tekgul, Hasan, Serdaroglu, Gul

Journal:

Metabolic Brain Disease

Année:

2017

Langue:

english

Fichier:

PDF, 1.97 MB

english, 2017

23

The Burden Endured by Caregivers of Patients With Morquio A Syndrome

Hendriksz, Christian J., Lavery, Christine, Coker, Mahmut, Ucar, Sema Kalkan, Jain, Mohit, Bell, Lisa, Lampe, Christina

Journal:

Journal of Inborn Errors of Metabolism & Screening

Année:

2014

Langue:

english

Fichier:

PDF, 599 KB

english, 2014

24

A novel mutation and in vivo confocal microscopic findings in Fabry disease

Degirmenci, Cumali, Yilmaz, Suzan Guven, Onay, Huseyin, Palamar, Melis, Ucar, Sema Kalkan, Kayikcioglu, Meral, Coker, Mahmut

Journal:

Saudi Journal of Ophthalmology

Année:

2017

Langue:

english

Fichier:

PDF, 756 KB

english, 2017

25

False positive diagnosis of lysosomal disease with dried blood spot (DBS) sample; leukocyte number as a challenging factor

Sozmen, Eser Y, Dondurmaci, Meral, Ucar, Sema Kalkan, Coker, Mahmut

Journal:

Molecular Genetics and Metabolism

Année:

2017

Langue:

english

Fichier:

PDF, 44 KB

english, 2017

26

Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases

Wortmann, Saskia B, Iwanicka-Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al-Owain, Mohammed A, Al-Zaidan, Hamad I, Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dal

Journal:

Annals of Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 1.40 MB

english, 2017

27

From rodent heart to inborn errors of human metabolism

Sass, Jörn Oliver, Kalkan Uçar, Sema, van Karnebeek, Clara D.M.

Journal:

Molecular Genetics and Metabolism

Année:

2018

Langue:

english

Fichier:

PDF, 245 KB

english, 2018

28

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

Köse, Melis, Canda, Ebru, Kagnici, Mehtap, Uçar, Sema Kalkan, Çoker, Mahmut

Journal:

Case Reports in Pediatrics

Année:

2017

Langue:

english

Fichier:

PDF, 1.35 MB

english, 2017

29

Single center experience of biotinidase deficiency: 259 patients and six novel mutations

Canda, Ebru, Yazici, Havva, Er, Esra, Kose, Melis, Basol, Gunes, Onay, Huseyin, Ucar, Sema Kalkan, Habif, Sara, Ozkinay, Ferda, Coker, Mahmut

Journal:

Journal of Pediatric Endocrinology and Metabolism

Année:

2018

Langue:

english

Fichier:

PDF, 191 KB

english, 2018

30

Coexistence of Gaucher Disease and severe congenital neutropenia

Köse, Melis Demir, Canda, Ebru, Kağnıcı, Mehtap, Uçar, Sema Kalkan, Onay, Hüseyin, Yıldırım, Eser Sözmen, Karapınar, Deniz, Özkınay, Ferda, Çoker, Mahmut

Journal:

Blood Cells, Molecules, and Diseases

Année:

2018

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2018

31

Insulin resistance in children with familial hyperlipidemia

Terlemez, Semiha, Bozdemir, Erkin, Kalkan Uçar, Sema, Kabaroğlu, Ceyda, Habif, Sara, Kayıkçıoğlu, Meral, Çoker, Mahmut

Journal:

Journal of Pediatric Endocrinology and Metabolism

Année:

2018

Langue:

english

Fichier:

PDF, 112 KB

english, 2018

32

D-30 BIOMARKERS FOR LYSOSOMAL STORAGE DISORDERS: CLINICAL APPROACH

Uçar, Sema Kalkan

Journal:

Turkish Journal of Biochemistry

Année:

2018

Langue:

english

Fichier:

PDF, 235 KB

english, 2018