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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

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.52-52, Article 52

2023

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

Heliyon, 2019-10, Vol.5 (10), p.e02574-e02574, Article e02574

2019

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Biochemical diagnosis of Sanfilippo disorder types A and B

Journal of Genetic Engineering and Biotechnology, 2023-12, Vol.21 (1), p.112, Article 112

2023

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Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum

Journal of molecular neuroscience, 2021-05, Vol.71 (5), p.1112-1130

2021

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Molecular study of Pompe disease in Egyptian infants

The Egyptian journal of medical human genetics, 2021-11, Vol.22 (1)

2021

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

Gene, 2017-02, Vol.600, p.48-54

2017

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Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene

Journal of Genetic Engineering and Biotechnology, 2021-08, Vol.19 (1), p.111, Article 111

2021

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Mucopolysaccharidoses diagnosis in the era of enzyme replacement therapy in Egypt

Heliyon, 2021-08, Vol.7 (8), p.e07830-e07830, Article e07830

2021

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Mass spectrometry for screening of metabolic disorders: 9-year biochemical genetics experience

Journal of the Arab Society for Medical Research, 2023-01, Vol.18 (1), p.51-59

2023

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

Bulletin of the Faculty of Pharmacy, 2018-12, Vol.56 (2), p.213-217

2018

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Fifteen years experience: Egyptian metabolic lab

The Egyptian journal of medical human genetics, 2014-10, Vol.15 (4), p.379-385

2014

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N- and O-glycan analysis for the detection of glycosylation disorders

The Egyptian journal of medical human genetics, 2021-01, Vol.22 (1)

2021

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

The Egyptian journal of medical human genetics, 2015-04, Vol.16 (2), p.159-163

2015

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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

Biomedical chromatography, 2023-12, Vol.37 (12)

2023

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Molecular characterization of Egyptian patients with glycogen storage disease type IIIa

Journal of human genetics, 2005-10, Vol.50 (10), p.538-542

2005

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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

Biomedical chromatography, 2023-12, Vol.37 (12), p.e5747-e5747

2023

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Largest Cohort Study of Gaucher Disease Type 3 from a Single Center in Egypt Spanning Two Decades

Blood, 2020-11, Vol.136 (Supplement 1), p.21-22

2020

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Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome

Scientific reports, 2024-05, Vol.14 (1), p.12148-12148

2024

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

Human mutation, 2016-02, Vol.37 (2), p.170-174

2016

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Prenatal diagnosis of perplexing cases of lipidoses

Bratislavské lékarské listy, 2008, Vol.109 (11), p.493-496

2008

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A multicenter, open-label, phase III study of Abcertin in Gaucher disease

Medicine (Baltimore), 2017-11, Vol.96 (45), p.e8492

2017

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

Muscle & nerve, 2011-03, Vol.43 (3), p.451-451

2011

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

Human mutation, 2016-02, Vol.37 (2), p.170-174

2016

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Variants in the NPC1 Gene in Egyptian Patients with Niemann-Pick Type C

Open access Macedonian journal of medical sciences, 2020-05, Vol.8 (A), p.134-145

2020

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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

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

Biochemical diagnosis of Sanfilippo disorder types A and B

Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum

Molecular study of Pompe disease in Egyptian infants

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

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene

Mucopolysaccharidoses diagnosis in the era of enzyme replacement therapy in Egypt

Mass spectrometry for screening of metabolic disorders: 9-year biochemical genetics experience

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

Fifteen years experience: Egyptian metabolic lab

N- and O-glycan analysis for the detection of glycosylation disorders

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

Profile of plasma free amino acids, carnitine and acylcarnitines, and JAK2 v617f mutation as potential metabolic markers in children with type 1 diabetic nephropathy

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa

Profile of plasma free amino acids, carnitine and acylcarnitines, and JAK2v617f mutation as potential metabolic markers in children with type 1 diabetic nephropathy

Largest Cohort Study of Gaucher Disease Type 3 from a Single Center in Egypt Spanning Two Decades

Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome

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

Prenatal diagnosis of perplexing cases of lipidoses

A multicenter, open-label, phase III study of Abcertin in Gaucher disease

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

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study

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

Variants in the NPC1 Gene in Egyptian Patients with Niemann-Pick Type C

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