المؤلفون: Canda E, Kalkan Uçar S, Çoker M

المصدر: Pediatric Health, Medicine and Therapeutics, Vol Volume 11, Pp 127-133 (2020)

مصطلحات موضوعية: biotinidase, biotin, newborn screening, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.dovepress.com/biotinidase-deficiency-prevalence-impact-and-management-strategies-peer-reviewed-article-PHMT; https://doaj.org/toc/1179-9927

URL الوصول: https://doaj.org/article/dd3b321d39ca4ae9a06a3e9afe6041a2

المؤلفون: Kalkan Uçar S., Yazıcı H., Canda E., Er E., Bulut F.D., Eraslan C., Onay H.

مصطلحات موضوعية: clinical overview, mitochondrial neurogastrointestinal encephalomyopathy, thymidine phosphorylase, abdominal pain, adolescent, adult, anorexia, Article, body mass, cachexia, child, clinical Article, disease exacerbation, echocardiography, female, follow up, gastrointestinal symptom, gene mutation, gene sequence, hearing impairment, hepatomegaly, human, leukoencephalopathy, limb weakness, male, mitral valve prolapse, MNGIE syndrome, nausea, nuclear magnetic resonance imaging, observational study

Relation: JIMD Reports; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1002/jmd2.12315; https://hdl.handle.net/11454/84767; 63; 484; 493; 2-s2.0-85137987381

الاتاحة: https://hdl.handle.net/11454/84767
https://doi.org/10.1002/jmd2.12315

المؤلفون: Keyzor, I, Maria Martins, A, Kalkan Uçar, S, Yamakawa, H, Giuliano, J, Shohet, S, Baldock, L, Andiappan, M

المصدر: Value in Health ; volume 25, issue 12, page S474 ; ISSN 1098-3015

الاتاحة: http://dx.doi.org/10.1016/j.jval.2022.09.2356
https://api.elsevier.com/content/article/PII:S1098301522045612?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098301522045612?httpAccept=text/plain

المؤلفون: Er E., Bozaci A.E., Yazici H., Canda E., Kalkan Uçar S., Güvenc Saka M., Eraslan C.

مصطلحات موضوعية: DHPR deficiency, BH4, hyperphenylalaninemia, l-Dopa, PKU, tetrahydrobiopterin deficiencies, 5 hydroxytryptophan, 6 pyruvoyltetrahydropterin synthase, amantadine, biogenic amine, biopterin, dihydropteridine reductase, folic acid, folinic acid, genomic DNA, guanosine triphosphate cyclohydrolase I, homovanillic acid, levodopa, monoamine, neopterin, neurotransmitter, phenylalanine, pterin, sapropterin, sepiapterin reductase, adult, adverse event, anthropometry, apathy, Article

Relation: JIMD Reports; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/79418; https://doi.org/10.1002/jmd2.12199; 59; 42; 51

الاتاحة: https://hdl.handle.net/11454/79418
https://doi.org/10.1002/jmd2.12199

المؤلفون: Kipper, K, Hecht, M, Antunes, NJ, Fairbanks, LD, Levene, M, Kalkan Uçar, S, Schaefer, A, Blakely, EL, Bax, BE

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/111807/1/jcm-09-00788.pdf; Kipper, K; Hecht, M; Antunes, NJ; Fairbanks, LD; Levene, M; Kalkan Uçar, S; Schaefer, A; Blakely, EL; Bax, BE (2020) Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy. J Clin Med, 9 (3). p. 788. ISSN 2077-0383 https://doi.org/10.3390/jcm9030788 SGUL Authors: Bax, Bridget Elizabeth

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/111807/
https://openaccess.sgul.ac.uk/id/eprint/111807/1/jcm-09-00788.pdf

المؤلفون: Bax, BE, Levene, M, Bain, MD, Fairbanks, LD, Filosto, M, Kalkan Uçar, S, Klopstock, T, Kornblum, C, Mandel, H, Rahman, S, Roubertie, A, Scarpelli, M, Sedgwick, PM, Baru, M, Sellos-Moura, M, Price, J, Horn, P, Nirmalananthan, N

المصدر: MDPI — JCM , 8 (8) , Article 1096. (2019)

مصطلحات موضوعية: MNGIE, Phase II, TYMP, enzyme replacement, erythrocyte encapsulated thymidine phosphorylase, mitochondrial disease, mitochondrial neurogastrointestinal encephalomyopathy, multiple dose, orphan disease, rare disease, thymidine phosphorylase

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10079375/8/Rahman_Erythrocyte%20Encapsulated%20Thymidine%20Phosphorylase%20for%20the%20Treatment%20of%20Patients%20with%20Mitochondrial%20Neurogastrointestinal%20Encephalomyopathy_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10079375/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10079375/8/Rahman_Erythrocyte%20Encapsulated%20Thymidine%20Phosphorylase%20for%20the%20Treatment%20of%20Patients%20with%20Mitochondrial%20Neurogastrointestinal%20Encephalomyopathy_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10079375/

المؤلفون: Canbay, E., Topbas, M., Sezer, E., Canda, E., Kalkan, Uçar, S., Çoker, M., Yildirim, Sözmen, E.

مصطلحات موضوعية: GALT, Dried blood spot, LC-MS/MS, Newborn screening, Blood, Liquid chromatography, Mass spectrometry, Carbohydrate metabolism, Enzymes activity, LC-MS-MS, Lc.ms/ms, Liquid chromatography - mass spectrometries, Optimisations, Spot samples, Enzyme activity, acetonitrile, galactose 1 phosphate uridylyltransferase, adolescent, adult, aged, Article, child, controlled study, dried blood spot testing, female, fluorometry, human, infant, intermethod comparison, liquid chromatography-mass spectrometry

Relation: Analytical Biochemistry; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/91591; https://doi.org/10.1016/j.ab.2023.115284; 678

الاتاحة: https://hdl.handle.net/11454/91591
https://doi.org/10.1016/j.ab.2023.115284

المؤلفون: Kalkan Uçar, S, Yazıcı, H, Canda, E, Er, E, Bulut, FD, Eraslan, C, Onay, H, Bax, BE, Çoker, M

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::4fe670540915ff4673c0466f549e9c9e

المؤلفون: Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Baric I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Horster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB

المصدر: Annals of Neurology, December 2017

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/244720; https://eprints.ncl.ac.uk/fulltext.aspx?url=244720/F11B7678-AFDD-478F-8FB0-B16FB2B12086.pdf&pub_id=244720

الاتاحة: https://eprints.ncl.ac.uk/244720

المؤلفون: Iwanicka-Pronicka K., Riley L., Roeben B., Rutsch F., Santer R., Schiff M., Seders M., Sequeira S., Sperl W., Unal O., Maas R.R., Kalkan Ucar S., Alhaddad B., AlSayed M., Al-Owain M.A., Al-Zaidan H.I., Balasubramaniam S., Baric I., Bubshait D.K., Burlina A., Christodoulou J., Chung W.K., Colombo R., Darin N., Freisinger P., Garcia Silva M.T., Grunewald S., Haack T.B., van Hasselt P.M., Hikmat O., Hörster F., Isohanni P., Ramzan K., Kovacs-Nagy R., Krumina Z., Martin-Hernandez E., Mayr J.A., McClean P., De Meirleir L., Naess K., Ngu L.H., Pajdowska M., Rahman S., Riordan G., Staufner C., Synofzik M., Taylor R.W., Trubicka J., Tsiakas K., Wassmer E., Wedatilake Y., Wolff T., Prokisch H., Morava E., Pronicka E., Wevers R.A., de Brouwer A.P., Wortmann S.B.

Relation: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Annals of Neurology; https://hdl.handle.net/11454/25350; https://doi.org/10.1002/ana.25110; 82; 1004; 1015

الاتاحة: https://hdl.handle.net/11454/25350
https://doi.org/10.1002/ana.25110

المؤلفون: Kayıkçıoğlu M., Kalkan Uçar S., Bayraktaroğlu S., Onay H., Sözmen E., Çoker M., Şimşek E.

Relation: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir; https://hdl.handle.net/11454/25377; https://doi.org/10.5543/tkda.2017.68709; 45; 549; 555

الاتاحة: https://hdl.handle.net/11454/25377
https://doi.org/10.5543/tkda.2017.68709

المؤلفون: Valayannopoulos, V, Baruteau, J, Delgado, MB, Cano, A, Couce, ML, Del Toro, M, Donati, MA, Garcia-Cazorla, A, Gil-Ortega, D, Gomez-De Quero, P, Guffon, N, Hofstede, FC, Kalkan-Ucar, S, Coker, M, Lama-More, R, Martinez-Pardo Casanova, M, Molina, A, Pichard, S, Papadia, F, Rosello, P, Plisson, C, Le Mouhaer, J, Chakrapani, A

المصدر: Orphanet Journal of Rare Diseases , 11 , Article 32. (2016)

مصطلحات موضوعية: Carglumic acid, Hyperammonaemia, Organic acidurias (OAs), OA decompensation episodes

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1529015/1/Baruteau_Carglumic%20acid%20in%20OA%20OJRD%20Valayanopoulos%202016.pdf; https://discovery.ucl.ac.uk/id/eprint/1529015/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1529015/1/Baruteau_Carglumic%20acid%20in%20OA%20OJRD%20Valayanopoulos%202016.pdf
https://discovery.ucl.ac.uk/id/eprint/1529015/

المؤلفون: Kalkan Uçar S., Öngen B., Levent E., Azarsız E., Koloğlu T., Çoker M., Sözmen E., Sağın F.G.

مصطلحات موضوعية: carotid intima-media thickness, atherosclerosis, children, flow-mediated dilatation, Hypercholesterolaemia, hyperlipidaemia, lipoprotein-associated phospholipase A2

Relation: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Annals of Clinical Biochemistry; https://hdl.handle.net/11454/25393; https://doi.org/10.1177/0004563216671338; 54; 539; 547

الاتاحة: https://hdl.handle.net/11454/25393
https://doi.org/10.1177/0004563216671338

المؤلفون: Sass, J.O., Gemperle-Britschgi, C., Tarailo-Graovac, M., Patel, N., Walter, M., Jordanova, A., Alfadhel, M., Barić, I., Çoker, M., Damli-Huber, A., Faqeih, E.A., García Segarra, N., Geraghty, M.T., Jåtun, B.M., Kalkan Uçar, S., Kriewitz, M., Rauchenzauner, M., Bilić, K., Tournev, I., Till, C., Sayson, B., Beumer, D., Ye, C.X., Zhang, L.H., Vallance, H., Alkuraya, F.S., van Karnebeek, C.D.

المصدر: Molecular genetics and metabolism, vol. 119, no. 1-2, pp. 44-49

مصطلحات موضوعية: Adolescent, Alleles, Amino Acid Metabolism, Inborn Errors/enzymology, Inborn Errors/genetics, Inborn Errors/physiopathology, Child, Preschool, Female, Glutathione/metabolism, Glutathione Synthase/deficiency, Glutathione Synthase/genetics, Heterozygote, Homozygote, Humans, Infant, Male, Mutation, Pyroglutamate Hydrolase/deficiency, Pyroglutamate Hydrolase/genetics, Pyrrolidonecarboxylic Acid/metabolism, 5-Oxoprolinase, 5-oxoprolinuria, Glutathione synthetase, Pyroglutamic aciduria, γ-glutamyl cycle

Relation: info:eu-repo/semantics/altIdentifier/pmid/27477828; info:eu-repo/semantics/altIdentifier/eissn/1096-7206; https://serval.unil.ch/notice/serval:BIB_BAA15F66199A

الاتاحة: https://serval.unil.ch/notice/serval:BIB_BAA15F66199A
https://doi.org/10.1016/j.ymgme.2016.07.008

المؤلفون: Özbek, SS, Kalkan Ucar, S, Kavukcu, G, Coker, M, Tamsel, S, Kurt, E

المصدر: Ultraschall in der Medizin - European Journal of Ultrasound ; volume 37, issue S 01 ; ISSN 0172-4614 1438-8782

الاتاحة: http://dx.doi.org/10.1055/s-0036-1587849
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0036-1587849

المؤلفون: Köse, M., Kağnıcı, M., Canda, E., Kalkan Uçar, S., Diniz, G., Ünalp, A., Yılmaz, Ü., Eraslan, C., Ceylaner, S., Taylor, R., Çoker, M.

المصدر: Neuromuscular Disorders ; volume 26, page S174 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2016.06.320
https://api.elsevier.com/content/article/PII:S0960896616306137?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896616306137?httpAccept=text/plain

المؤلفون: Kalkan, Ucar S., Koroglu, O., Kultursay, N., Coker, M., Yalaz, M.

Relation: Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Journal of Inherited Metabolic Disease; https://hdl.handle.net/11454/43617; 33; S135

الاتاحة: https://hdl.handle.net/11454/43617

المؤلفون: Kagnici, M., Kalkan, Ucar S., Akaslan, A., Coker, M.

Relation: Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Journal of Inherited Metabolic Disease; https://hdl.handle.net/11454/43619; 33; S144

الاتاحة: https://hdl.handle.net/11454/43619

المؤلفون: Kalkan, Ucar S., Church, H., Savage, W., Coker, M., Habif, S.

Relation: Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Journal of Inherited Metabolic Disease; https://hdl.handle.net/11454/43618; 33; S123

الاتاحة: https://hdl.handle.net/11454/43618

المؤلفون: Kalkan, Ucar S., Akaslan, A., Kagnici, M., Coker, M.

المساهمون: Ege Üniversitesi

Relation: Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Journal of Inherited Metabolic Disease; https://hdl.handle.net/11454/43619; 33; S144

الاتاحة: https://hdl.handle.net/11454/43619