Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Ekram M. Fateen"'
Autor:
Mona L. Essawi, Ekram M. Fateen, Hanan A. Atia, Noura R. Eissa, Eman H. Aboul-Ezz, Mona M. Ibrahim, Heba A. Hassan, Samia A. Temtamy
Publikováno v:
Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-10 (2021)
Abstract Background Mucolipidosis II (ML II α/β) is an inherited lysosomal storage disorder caused by deficiency of GlcNAc-phosphotransferase enzyme and results in mis-targeting of multiple lysosomal enzymes. Affected patients are characterized by
Externí odkaz:
https://doaj.org/article/61c613f793f842c38196da2d5c2520e0
Autor:
Khaled R. Gaber, Mona M. Ibrahim, Mona K. Farag, Zeinab Y. Abdallah, Sara H. Eldessouky, Ekram M. Fateen
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 16, Iss 2, Pp 159-163 (2015)
Background: Mucopolysaccharidoses (MPS) are autosomal recessive disorders characterized by deficiency of lysosomal enzymes which break down the glycosaminoglycans (GAGs) which results in widespread intra and extra-cellular accumulations of GAGs. Earl
Externí odkaz:
https://doaj.org/article/2155c438ea20460e8c30953690f0030b
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 15, Iss 4, Pp 379-385 (2014)
Background: Inborn errors of metabolism (IEM) are single gene disorders responsible for abnormalities in the synthesis or catabolism of proteins, carbohydrates and fats by means of defective enzymes or transport proteins which results in a block of t
Externí odkaz:
https://doaj.org/article/f4c2d465c6bd4bcc98da6aa0b967f60e
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-7 (2021)
Background Pompe disease (PD) is a serious genetic disorder caused by deficiency of acid α-glucosidase (GAA) and subsequent glycogen accumulation inside lysosomes. This study included a cohort of 5 Egyptian infants (1–8 months old) with far lower
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::791255a206d48271f92a1f31861f6144
https://doi.org/10.1186/s43042-021-00203-7
https://doi.org/10.1186/s43042-021-00203-7
Autor:
Heba A. Hassan, Hanan Abd Elmawgoud Atia, Samia A. Temtamy, Ekram M. Fateen, Eman Aboul-Ezz, Mona M. Ibrahim, Mona L. Essawi, Noura R. Eissa
Publikováno v:
Journal of Genetic Engineering & Biotechnology
Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-10 (2021)
Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-10 (2021)
Background Mucolipidosis II (ML II α/β) is an inherited lysosomal storage disorder caused by deficiency of GlcNAc-phosphotransferase enzyme and results in mis-targeting of multiple lysosomal enzymes. Affected patients are characterized by skeletal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::768162f8d51b257070092992cd7cd319
https://doi.org/10.1186/s43141-021-00204-4
https://doi.org/10.1186/s43141-021-00204-4
Publikováno v:
Azhar International Journal of Pharmaceutical and Medical Sciences.
The study aimed to diagnose type 1 and 2 of neuronal ceroid lipofuscinoses (NCLs) using leukocytes and dried blood spot samples. A hundred subjects divided equally to patient and control groups of matching age and sex were included. The patient group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd2a2da972c85d418d493e47db3a4951
https://doi.org/10.21608/aijpms.2021.60825.1044
https://doi.org/10.21608/aijpms.2021.60825.1044
Autor:
Noha A. El-Boghdady, Ekram M. Fateen, Amira Radwan, Mona Aglan, Mona M. Ibrahim, Manal F. Ismail
Publikováno v:
Bulletin of Faculty of Pharmacy, Cairo University, Vol 56, Iss 2, Pp 213-217 (2018)
Mucopolysaccharidosis (MPS) and oligosaccharidosis are lysosomal storage disorders (LSDs) that share many clinical features. The present study aimed to establish a protocol for the biochemical diagnosis of these disorders and their subtypes in affect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::966b921b796f7154628bb30b4ddf8c6a
https://doi.org/10.1016/j.bfopcu.2018.10.005
https://doi.org/10.1016/j.bfopcu.2018.10.005
Autor:
Samy M. Saleh, Ekram M. Fateen, Amr S. Gouda, Sonia A. El-Saiedi, Nesrine S. Elfeel, Hala S. Hamza, Mai A. Youssef Ismail, Dina M. Abo-el Matty
Publikováno v:
Middle East Journal of Medical Genetics. 6:75-81
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e679d2faab030cb0e7edc424f20462e8
https://doi.org/10.1097/01.mxe.0000521019.02657.75
https://doi.org/10.1097/01.mxe.0000521019.02657.75
Publikováno v:
Middle East Journal of Medical Genetics. 6:61-69
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b22b45e2f94a50123c935fbc8fa7f66
https://doi.org/10.1097/01.mxe.0000520527.54080.ab
https://doi.org/10.1097/01.mxe.0000520527.54080.ab
Autor:
Mona M. Ibrahim, Ekram M. Fateen, Noura R. Eissa, Mona L. Essawi, Mona Aglan, Hanan Abd El Mawgoud
Publikováno v:
Gene. 600:48-54
Morquio A disease (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS) encoded by the GALNS gene. This deficiency leads
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f99de1b3fb0af575690ba8c0ad9da2e
https://doi.org/10.1016/j.gene.2016.11.002
https://doi.org/10.1016/j.gene.2016.11.002