Fateen, Ekram M. : rechercher sur Z-Library

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1

Phenotypical variability in glycogen storage disease type III with a recurrent AGL mutation c.750–753delAGAC

Minoru Okubo, Konstantinos Spengos, Panagiota Manta, Ekram Fateen

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 173 KB

english, 2011

2

Egyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId

Endo, Yoriko, Fateen, Ekram, El Shabrawy, Mortada, Aoyama, Yoshiko, Ebara, Tetsu, Murase, Toshio, Podskarbi, Teodor, Shin, Yoon S., Okubo, Minoru

Journal:

Clinical Chemistry and Laboratory Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 243 KB

english, 2009

3

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa

Yoriko Endo, Ekram Fateen, Yoshiko Aoyama, Asako Horinishi, Tetsu Ebara, Toshio Murase, Yoon S. Shin, Minoru Okubo

Journal:

Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 273 KB

english, 2005

4

Dyggve–Melchior–Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

Mona S. Aglan, Samia A. Temtamy, Ekram Fateen, Adel M. Ashour, Khamis Eldeeb, Gamal A. Hosny

Journal:

Journal of Children's Orthopaedics

Année:

2009

Langue:

english

Fichier:

PDF, 284 KB

english, 2009

5

Outcome of enzyme replacement therapy in children with Gaucher disease: The Egyptian experience

Ahmed S. Khalifa, Azza A. Tantawy, Rabah M. Shawky, Eman Monir, Solaf M. Elsayed, Ekram Fateen, Alan Cooper

Journal:

Egyptian Journal of Medical Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 614 KB

english, 2011

6

Glycogen storage disease type III in Egyptian children: A single centre clinico-laboratory study

El-Karaksy, Hanaa, Anwar, Ghada, El-Raziky, Mona, Mogahed, Engy, Fateen, Ekram, Gouda, Amr, El-Mougy, Fatma, El-Hennawy, Ahmed

Journal:

Arab Journal of Gastroenterology

Année:

2014

Langue:

english

Fichier:

PDF, 673 KB

english, 2014

7

Mutational Analysis of the α-L-Iduronidase Gene in Three Egyptian Families: Identification of Three Novel Mutations and Five Novel Polymorphisms

Amr, Khalda, Katoury, Ahmed, Abdel-Hamid, Mohamed, Bassiouni, Randa, Ibrahim, Mona, Fateen, Ekram

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2009

Langue:

english

Fichier:

PDF, 29.36 MB

english, 2009

8

Biochemical diagnosis of mucopolysaccharidoses over 11 years

Fateen, Ekram M., Ibrahim, Mona M., Gouda, Amr S., Youssef, Zienab A.

Journal:

Middle East Journal of Medical Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 442 KB

english, 2014

9

Prenatal genetic testing, counseling and follow-up of 33 Egyptian pregnant females with history of mucopolysaccharidoses

Gaber, Khaled R., Ibrahim, Mona M., Farag, Mona K., Abdallah, Zeinab Y., Eldessouky, Sara H., Fateen, Ekram M.

Journal:

Egyptian Journal of Medical Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2015

10

Fifteen years experience: Egyptian metabolic lab

Fateen, Ekram M., Gouda, Amr S., Ibrahim, Mona M., Abdallah, Zeinab Y.

Journal:

Egyptian Journal of Medical Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 419 KB

english, 2014

11

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nürnberg, Gudrun, Stern-Schneider, Gabi, Nürnberg, Peter, Karnati, Srikanth, Swan, Daniel, Fateen, Ekram, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I.,

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 634 KB

english, 2016

12

Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

Fateen, Ekram M., El Mawgoud, Hanan Abd, Eissa, Noura R., Ibrahim, Mona M., Aglan, Mona S., Essawi, Mona L.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 691 KB

english, 2016

13

Effect of diode laser on antioxidant enzymes of salivary glands in diabetic rats

El-Sadek, Hoda, El-Hadidi, Sahar M.A., Aboul-Ezz, Eman H.A., Fateen, Ekram M., Sobhy, Amr G., Rashed, Laila A., Yehia, Hussein

Journal:

Middle East Journal of Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 219 KB

english, 2017

14

Biochemical study of glycogen storage disease type II (Pompe disease) in Egyptian infants

Fateen, Ekram M., Hamza, Hala S., Abo-el Matty, Dina M., Gouda, Amr S., El-Saiedi, Sonia A., Saleh, Samy M., Sobhy Elfeel, Nesrine M., Youssef Ismail, Mai A.

Journal:

Middle East Journal of Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 419 KB

english, 2017

15

Mutational analysis of a cohort of Egyptian patients with Gaucher disease

Fateen, Ekram M., Fathy, Heba M., Aboul Maaty, Dina M., Kamel, Noha M., Abdel Aleem, Alice K.

Journal:

Middle East Journal of Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 211 KB

english, 2017

16

Differential diagnosis of mucopolysaccharidosis and oligosaccharidosis of a sample of Egyptian children

Fateen, Ekram, Ismail, Manal Fouad, El-Boghdady, Noha Ahmed, Aglan, Mona, Ibrahim, Mona, Radwan, Amira

Journal:

Bulletin of Faculty of Pharmacy Cairo University

Année:

2018

Langue:

english

Fichier:

PDF, 212 KB

english, 2018

17

Identification of Three Novel Homozygous NAGLU Mutations in Egyptian Patients with Sanfilippo Syndrome B

Mohammed, Eman E.A., Fateen, Ekram M.

Journal:

Année:

2019

Fichier:

PDF, 2.28 MB

2019

18

Twenty- five years of biochemical diagnosis of Gaucher disease: the Egyptian experience

Fateen, Ekram, Abdallah, Zeinab Y.

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 853 KB

english, 2019