Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene von Essawi, Mona L, Fateen, Ekram M, Atia, Hanan A, Eissa, Noura R, Aboul-Ezz, Eman H, Ibrahim, Mona M, Hassan, Heba A

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Biochemical diagnosis of Sanfilippo disorder types A and B von Nosier, Soha S, El Nakeeb, Seham M. S, Ibrahim, Mona M, El-Gammal, Mona, Fateen, Ekram M

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Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease von Fateen, Ekram M., El Mawgoud, Hanan Abd, Eissa, Noura R., Ibrahim, Mona M., Aglan, Mona S., Essawi, Mona L.

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Mass spectrometry for screening of metabolic disorders: 9-year biochemical genetics experience von Nazim, Walaa, Fateen, Ekram, Gouda, Amr, Radwan, Amira, Al-Sharkawi, Mostafa, Elbaz, Azza

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Fifteen years experience: Egyptian metabolic lab von Fateen, Ekram M., Gouda, Amr S., Ibrahim, Mona M., Abdallah, Zeinab Y.

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Prenatal genetic testing, counseling and follow-up of 33 Egyptian pregnant females with history of mucopolysaccharidoses von Gaber, Khaled R., Ibrahim, Mona M., Farag, Mona K., Abdallah, Zeinab Y., Eldessouky, Sara H., Fateen, Ekram M.

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Prenatal diagnosis of perplexing cases of lipidoses von Aboul Nasr, Ahmed L, Fateen, Ekram M

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Variants in the NPC1 Gene in Egyptian Patients with Niemann-Pick Type C von Essawi, Mona L., Abdel-aleem, Asmaa F., Badawy, Mohamed A., Zaki, Maha S., Mohamed, Magda F., Hassan, Heba A., Fateen, Ekram M.

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The Effect of Diet on Antioxidant Status in Patients with Galactosemia von ., Hala T. El-Bassyouni, ., Adel M. Ashour, ., Afaf Ezzat, ., Randa Bassiouni, ., Ekram M. Fateen

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Screening for phenylketonuria and galactosemia among Egyptian newborns in menoufiya governorate von al-Araby, Hana, Fateen, Ekram M., Jawdah, Amr

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Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients : six years experience von Boehles, H., Jawdah, Amr, Fateen, Ekram M., Sewell, A.

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Identification of Three Novel Homozygous NAGLU Mutations in Egyptian Patients with Sanfilippo Syndrome B von Mohammed, Eman E.A., Fateen, Ekram M.

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Profile of Egyptian patients with mucopolysaccharidosis von Rifat, M. M., Baha al-Din, Nirmin M., Fateen, Ekram M., Zaki, Iman A., Shawqi, Rabah M.

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Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome von Mohammed, Eman E. A., Fayez, Alaaeldin G., Abdelfattah, Nabil M., Fateen, Ekram

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Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum von Ibrahim, Doaa M A, Ali, Ola S M, Nasr, Hala, Fateen, Ekram, AbdelAleem, Alice

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Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum von Amr, Khalda, Fateen, Ekram, Mansour, Lobna, Tosson, Angie MS, Zaki, Maha S., Salam, Ghada MH. Abdel, Mohamed, Ahmed Nabil, El-Bassyouni, Hala T.

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Profile of plasma free amino acids, carnitine and acylcarnitines, and JAK2 v617f mutation as potential metabolic markers in children with type 1 diabetic nephropathy von Hassan, Mohammed H., Galal, Omyma, Sakhr, Hala M., Kamaleldeen, Eman B., Zekry, Nadia Farouk, Fateen, Ekram, Toghan, Rana

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Profile of plasma free amino acids, carnitine and acylcarnitines, and JAK2v617f mutation as potential metabolic markers in children with type 1 diabetic nephropathy von Hassan, Mohammed H, Galal, Omyma, Sakhr, Hala M, Kamaleldeen, Eman B, Zekry, Nadia Farouk, Fateen, Ekram, Toghan, Rana

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Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion von El-Beshlawy, Amal, Tantawy, Azza A. G, Shawky, Rabah M, Elsayed, Solaf M, Marzouk, Iman M, Elgawhary, S, Abdelghaffar, Hadeer

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Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades von El-Beshlawy, Amal, Abdel-Azim, Khaled, Abdel-Salam, Amina, Selim, Yasmeen M. M., Said, Fadwa, Gebril, Nadine A., Fateen, Ekram, Mistry, Pramod

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