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1

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Germain, Dominique P., Hughes, Derralynn A., Nicholls, Kathleen, Bichet, Daniel G., Giugliani, Roberto, Wilcox, William R., Feliciani, Claudio, Shankar, Suma P., Ezgu, Fatih, Amartino, Hernan, Bratkov

Journal:

New England Journal of Medicine

Year:

2016

Language:

english

File:

PDF, 408 KB

english, 2016

2

Lhermitte-Duclos Disease in a Six-Year Old Child: A Rare Presentation

Ezgu, Mehmet Can, Ozer, Mehmet Ilker, Dogan, Adem, Deveci, Guzin, Kural, Cahit, Izci, Yusuf

Journal:

Pediatric Neurosurgery

Year:

2018

Language:

english

File:

PDF, 1.00 MB

english, 2018

3

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

Jones, Simon A., Rojas-Caro, Sandra, Quinn, Anthony G., Friedman, Mark, Marulkar, Sachin, Ezgu, Fatih, Zaki, Osama, Gargus, J. Jay, Hughes, Joanne, Plantaz, Dominique, Vara, Roshni, Eckert, Stephen, A

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 913 KB

english, 2017

4

Fluorescein Sodium-Guided Neuroendoscopic Resection of Deep-Seated Malignant Brain Tumors: Preliminary Results of 18 Patients

Kutlay, Murat, Durmaz, Ozan, Ozer, Ä°lker, KÄ±rÄ±k, Alpaslan, Yasar, Soner, Kural, Cahit, Temiz, ÃaÄlar, Tehli, Ãzkan, Ezgu, Mehmet Can, Daneyemez, Mehmet, Izci, Yusuf

Journal:

Operative Neurosurgery

Year:

2020

File:

PDF, 27.40 MB

2020

5

The Erlenmeyer flask bone deformity in the skeletal dysplasias

Maha A. Faden, Deborah Krakow, Fatih Ezgu, David L. Rimoin, Ralph S. Lachman

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 184 KB

english, 2009

6

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations

Marlies J. Valstar, Aida M. Bertoli-Avella, Marja W. Wessels, George J.G. Ruijter, Bianca de Graaf, Renske Olmer, Peter Elfferich, Sanne Neijs, Roxana Kariminejad, Fatih Suheyl Ezgü, Aysegul Tokatli,

Journal:

Year:

2010

Language:

english

File:

PDF, 187 KB

english, 2010

7

Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide

Tuba F. Eminoglu, Leyla Tumer, Ilyas Okur, Fatih S. Ezgu, Gursel Biberoglu, Alev Hasanoglu

Journal:

Forensic Science International

Year:

2011

Language:

english

File:

PDF, 177 KB

english, 2011

8

Suspected allergy to lamotrigine

K Gücüyener, Türktaş*, A Serdarog lu, Fs Ezgü

Journal:

Year:

1999

Language:

english

File:

PDF, 76 KB

english, 1999

9

Coagulopathy in Gaucher disease

Gülyüz Öztürk, Ülker Koçak, Türkiz Gürsel, Fatih Süheyl Ezgü

Journal:

Indian Journal of Pediatrics

Year:

1998

Language:

english

File:

PDF, 133 KB

english, 1998

10

Vitamin D intoxication and hypercalcaemia in an infant treated with pamidronate infusions

FatihSuheyl Ezgu, Necla Buyan, Mehmet Gündüz, Leyla Tümer, Ilyas Okur, Alev Hasanoglu

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 278 KB

english, 2004

11

Acute renal failure due to rhabdomyolysis in a child with McArdle disease

Ali Delibaş, Kenan Bek, Fatih Süheyl Ezgü, Gülay Demircin, Ayşegül Oksal, Ayşe Öner

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 107 KB

english, 2008

12

N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia

Cigdem Seher Kasapkara, Fatih Suheyl Ezgu, Ilyas Okur, Leyla Tumer, Gursel Biberoglu, Alev Hasanoglu

Journal:

European Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 72 KB

english, 2011

13

The co-existence of Fabry and celiac diseases: a case report

Leyla Tümer, FatihS. Ezgü, Alev Hasanoğlu, Buket Dalgıç, SevcanA. Bakkaloğlu, Leyla Memiş, Ayşe Dursun

Journal:

Pediatric Nephrology

Year:

2004

Language:

english

File:

PDF, 159 KB

english, 2004

14

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R

Alev Hasanoglu, Manisha Balwani, Çiğdem S. Kasapkara, Fatih S. Ezgü, İlyas Okur, Leyla Tümer, Alpay Çakmak, Irina Nazarenko, Chunli Yu, Sonia Clavero, David F. Bishop, Robert J. Desnick

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 350 KB

english, 2011

15

P13—A Case of Fabry Disease With Unexplained Abdominal Pain

A. Küçükçongar, F.S. Ezgü, L. Tümer, B. Dalgıç, A. Hasanoğlu

Journal:

Clinical Therapeutics

Year:

2012

Language:

english

File:

PDF, 68 KB

english, 2012

16

P17—Importance of Family Screening in Fabry Disease: Reaching the Bottom of the iceberg

S. Koca, F. Ezgu, I. Okur, G. Biberoglu, L. Tumer, S. Bakkaloglu, Y. Erten, S. Bahceci, M. Polat, A. Hasanoglu

Journal:

Clinical Therapeutics

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

17

A girl with spastic tetraparesis associated with biotinidase deficiency

Mustafa Komur, Cetin Okuyaz, Fatih Ezgu, Aytug Atici

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 197 KB

english, 2011

18

Plasma leptin levels of large for gestational age and small for gestational age infants

P Cinaz, E Şen, A Bideci, F Süheyl Ezgü, Y Atalay, E Koca

Journal:

Acta Paediatrica

Year:

1999

Language:

english

File:

PDF, 51 KB

english, 1999

19

Cirrhosis in an infant heterozygous for classical citrullinaemia

Fatih Süheyl Ezgü, Leyla Tümer, Buket Dalgiç, Alev Hasanoĝlu, Keiko Kobayashi, Takeyori Saheki

Journal:

Acta Paediatrica

Year:

2005

Language:

english

File:

PDF, 72 KB

english, 2005

20

Rapid screening of 10 common mutations in Turkish Gaucher patients using electronic DNA microarray

Fatih Ezgu, Alev Hasanoglu, Ilyas Okur, Gursel Biberoglu, Leyla Tumer, Tuba Eminoglu, Haldun Dogan

Journal:

Blood Cells, Molecules, and Diseases

Year:

2008

Language:

english

File:

PDF, 282 KB

english, 2008

21

Fabry Disease Mutations Addressable with Migalastat HCl, an Investigational Chaperone Therapy. Screening Results from FACETS, a Phase 3 Study in Male and Female Patients

Daniel Bichet, Pol Boudes, Sharaf El Din, Fatih Ezgu, Claudio Feliciani, Anna Zampetti, Charles Marques Lourenco, Kathy Nicholls, Jeff Castelli, Chemise Overton, Sheela Sitaraman, Elfrida Benjamin, Xi

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 63 KB

english, 2012

22

SRD5A3-CDG: A patient with a novel mutation

C.S. Kasapkara, L. Tümer, F.S. Ezgü, A. Hasanoğlu, V. Race, G. Matthijs, J. Jaeken

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 310 KB

english, 2012

23

Endothelial activation and inflammation in prepubertal obese Turkish children

Fatih Süheyl Ezgü, Alev Hasanoğlu, Leyla Tümer, Ferda Özbay, Cemalettin Aybay, Mehmet Gündüz

Journal:

Year:

2005

Language:

english

File:

PDF, 124 KB

english, 2005

24

O-32 APHERESIS-INDUCIBLE CYTOKINE PATTERN CHANGE IN CHILDREN WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

A. Kucukcongar, I. Yenicesu, L. Tumer, C. Seher Kasapkara, F. Suheyl Ezgu, O. Pasaoglu, C. Demirtas, B. Celik, G. Dilsiz, A. Hasanoglu

Journal:

Transfusion and Apheresis Science

Year:

2012

Language:

english

File:

PDF, 59 KB

english, 2012

25

Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray

Eminoglu, Tuba Fatma, Ezgu, Fatih Süheyl, Hasanoglu, Alev, Tumer, Leyla

Journal:

Year:

2013

Language:

english

File:

PDF, 316 KB

english, 2013

26

The Gene of Bloom's Syndrome: An Autosomal Recessive Disorder with Male Dominance

Aslan, Deniz, Ezgu, Fatih Suheyl

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 45 KB

english, 2009

27

Severe renal tubulopathy in a newborn due to BCS1L gene mutation: Effects of different treatment modalities on the clinical course

Ezgu, Fatih, Senaca, Sara, Gunduz, Mehmet, Tumer, Leyla, Hasanoglu, Alev, Tiras, Ulku, Unsal, Rukiye, Bakkaloglu, Sevcan A.

Journal:

Year:

2013

Language:

english

File:

PDF, 195 KB

english, 2013

28

Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?

Tümer, Leyla, Kasapkara, Çiğdem Seher, Biberoğlu,, Gürsel, Ezgü, Fatih, Hasanoğlu, Alev

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2013

Language:

english

File:

PDF, 412 KB

english, 2013

29

Diagnosis of glycine encephalopathy in a pediatric patient by detection of aGLDCmutation during initial next generation DNA sequencing

Ezgu, Fatih, Çiftci, Bahattin, Topçu, Burcu, Adıyaman, Gülcan, Gökmenoğlu, Hatice, Küçükçongar, Aynur, Kasapkara, Çiğdem, Biberoğlu, Gürsel, Tümer, Leyla, Hasanoğlu, Alev

Journal:

Metabolic Brain Disease

Year:

2014

Language:

english

File:

PDF, 197 KB

english, 2014

30

Phase 3 study of migalastat HCl for Fabry disease: Stage 1 results

Nicholls, Kathy, Germain, Dominique P., Feliciani, Claudio, Shankar, Suma, Ezgu, Fatih, Janmohamed, Salim G., Laing, Shiona M., Schroyer, Rosemary O., Bragat, Alex C., Sitaraman, Sheela, Boudes, Pol F

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 64 KB

english, 2013

31

Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: Identification of new case with novel mutation

Okur, Ilyas, Ezgu, Fatih, Biberoglu, Gursel, Tumer, Leyla, Erten, Yasemin, Isitman, Muzeyyen, Eminoglu, Fatma Tuba, Hasanoglu, Alev

Journal:

Year:

2013

Language:

english

File:

PDF, 436 KB

english, 2013

32

18-P

Gönen, Sevim, Ezgü, Sevcan Bakkaloglu, Güz, Galip

Journal:

Human Immunology

Year:

2012

Language:

english

File:

PDF, 31 KB

english, 2012

33

Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene

Ezgu, Fatih, Krejci, Pavel, Wilcox, Wiliam R.

Journal:

Year:

2013

Language:

english

File:

PDF, 656 KB

english, 2013

34

Serum dipeptidyl peptidase-IV: A better screening test for early detection of mucopolysaccharidosis?

Kurt, Ismail, Sertoglu, Erdim, Okur, Ilyas, Tapan, Serkan, Uyanık, Metin, Kayadıbı, Huseyin, Ezgu, Fatih Suheyl, Aydın, Halil Ibrahim, Hasanoglu, Alev

Journal:

Clinica Chimica Acta

Year:

2014

Language:

english

File:

PDF, 403 KB

english, 2014

35

Desensitisation of the youngest patient with Pompe disease in response to alglucosidase alfa

Karagol, I.H.E., Bakirtas, A., Yilmaz, O., Topal, E., Kucukcongar, A., Ezgu, F.S., Demirsoy, M.S., Turktas, I.

Journal:

Allergologia et Immunopathologia

Year:

2014

Language:

english

File:

PDF, 348 KB

english, 2014

36

Apheresis-inducible cytokine pattern change in children with homozygous familial hypercholesterolemia

Küçükçongar, Aynur, Yenicesu, İdil, Tümer, Leyla, Kasapkara, Çiğdem Seher, Ezgü, Fatih Süheyl, Paşaoğlu, Özge, Demirtaş, Canan, Çelik, Bülent, Dilsiz, Günter, Hasanoğlu, Alev

Journal:

Transfusion and Apheresis Science

Year:

2013

Language:

english

File:

PDF, 670 KB

english, 2013

37

Neuron-Specific Enolase Levels and Neuroimaging in Asphyxiated Term Newborns

Ezgu, F. S., Atalay, Y., Gucuyener, K., Tunc, S., Koc, E., Ergenekon, E., Tiras, U.

Journal:

Journal of Child Neurology

Year:

2002

Language:

english

File:

PDF, 79 KB

english, 2002

38

Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome

Ezgu, F., Krejci, P., Li, S., de Sousa, C., Graham, J.M., Hansmann, I., He, W., Porpora, K., Wand, D., Wertelecki, W., Schneider, A., Wilcox, W.R.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 918 KB

english, 2014

39

EFFECTS OF ORAL GLUTAMINE SUPPLEMENTATION ON CHILDREN WITH SOLID TUMORS RECEIVING CHEMOTHERAPY

Okur, Arzu, Ezgü, Fatih Süheyl, Tümer, Leyla, Cinasal, Gülden, Oguz, Aynur, Hasanoglu, Alev, Karadeniz, Ceyda

Journal:

Pediatric Hematology-Oncology

Year:

2006

Language:

english

File:

PDF, 96 KB

english, 2006

40

Rapid Molecular Diagnosis of Genetic Diseases by High Resolution Melting Analysis: Fabry and Glycogen Storage 1A Diseases

Ezgu, Fatih, Divanoglu, Yoruk, Polat, Murat, Bahceci, Sitkiye, Hasanoglu, Alev, Desnick, Robert J.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2014

Language:

english

File:

PDF, 337 KB

english, 2014

41

Oxidized low-density lipoprotein levels and carotid intima-media thickness as markers of early atherosclerosis in prepubertal obese children

Okur, Ilyas, Tumer, Leyla, Ezgu, Fatih Suheyl, Yesilkaya, Ediz, Aral, Arzu, Oktar, Suna Ozhan, Bideci, Aysun, Hasanoglu, Alev

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2013

Language:

english

File:

PDF, 193 KB

english, 2013

42

A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene

Akdag, Arzu, Oğuz, Serife Suna, Ezgü, Fatih, Erdeve, Omer, Uraş, Nurdan, Dilmen, Uğur

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2011

Language:

english

File:

PDF, 67 KB

english, 2011

43

Homocysteine, Fibrinogen and Anti-ox-LDL Antibody Levels as Markers of Atherosclerosis in Prepubertal Obese Children

Ezgü, F., Tümer, L., Ozbay, F., Hasanoğlu, A., Biberoğlu, G., Aybay, C.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2009

Language:

english

File:

PDF, 514 KB

english, 2009

44

Importance of family screening in Fabry disease: Reaching the bottom of the iceberg

Ezgü, Fatih, Koca, Serhat, Okur, İlyas, Biberoğlu, Gürsel, Tümer, Leyla, Bakkaloğlu, Sevcan, Erten, Yasemin, Hasanoğlu, Alev

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 49 KB

english, 2015

45

Radiologic findings of Patterson-Lowry rhizomelic dysplasia in two sisters

Damar, Çağrı, Boyunağa, Öznur, Derinkuyu, Betül Emine, Battaloğlu, Nergiz, Ezgü, Fatih Süheyl

Journal:

Skeletal Radiology

Year:

2014

Language:

english

File:

PDF, 969 KB

english, 2014

46

BCS1L gene mutation causing GRACILE syndrome: case report

Kasapkara, Çiğdem Seher, Tümer, Leyla, Ezgü, Fatih Suheyl, Küçükçongar, Aynur, Hasanoğlu, Alev

Journal:

Year:

2014

Language:

english

File:

PDF, 94 KB

english, 2014

47

A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient with Prader Willi Syndrome

Yi , U., Ezgu, F. S., Karakaya, P., Polat, I., Arslan, N., Cankaya, T., Bozkaya, O. G., Kurul, S. H.

Journal:

Journal of Child Neurology

Year:

2015

Language:

english

File:

PDF, 368 KB

english, 2015

48

Cirrhosis in an infant heterozygous for classical citrullinaemia

Ezgü, Fatih, Tümer, Leyla, Dalgiç, Buket, Hasanoĝlu, Alev, Kobayashi, Keiko, Saheki, Takeyori

Journal:

Acta Paediatrica

Year:

2005

Language:

english

File:

PDF, 76 KB

english, 2005

49

Serum Carnitine Levels in Newborns with Perinatal Asphyxia and Relation to Neurologic Prognosis

Ezgü, F.S., Atalay, Y., Hasanoğlu, A., Gücüyener, K., Biberoğlu, G., Koç, E., Ergenekon, E., Tümer, L.

Journal:

Nutritional Neuroscience

Year:

2004

Language:

english

File:

PDF, 89 KB

english, 2004

50

Glikojen depo tip 1a ve tip 1b olgularında klinik özellikler ve hastalığın seyri

Tuba Eminoğlu, Fatma, Tümer, Leyla, Okur, İlyas, Süheyl Ezgü, Fatih, Hasanoğlu, Alev

Journal:

Türk Pediatri Arşivi

Year:

2013

Language:

turkish

File:

PDF, 399 KB

turkish, 2013

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