Search Results - "Elmonem, Mohamed A."

Connective tissue growth factor (CTGF) from basics to clinics by Ramazani, Yasaman, Knops, Noël, Elmonem, Mohamed A., Nguyen, Tri Q., Arcolino, Fanny Oliveira, van den Heuvel, Lambert, Levtchenko, Elena, Kuypers, Dirk, Goldschmeding, Roel

“…Connective tissue growth factor, also known as CCN2, is a cysteine-rich matricellular protein involved in the control of biological processes, such as cell…”
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Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis by Elkhateeb, Nour, Selim, Rasha, Soliman, Neveen A., Atia, Fatma M., Abouelwoun, Ihab Ibrahim, Elmonem, Mohamed. A., Helmy, Rasha

“…Background Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by kidney and extra-renal complications due to the…”
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Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria by Abdelkhalek, Zeinab S., Mahmoud, Iman G., Omair, Heba, Abdulhay, Mohamed, Elmonem, Mohamed A.

“…Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the homogentisate 1,2-dioxygenase ( HGD) gene. This leads…”
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Management strategy and novel ophthalmological findings in neonatal severe hypertriglyceridemia: a case report and literature review by El-Koofy, Nehal M, Abdo, Yasmeen A, El-Fayoumi, Dina, Esmael, Amanne F, Elmonem, Mohamed A, Ezzeldin, Zahraa

“…Neonatal severe hypertriglyceridemia is rarely reported in the literature and there is no consensus for hypertriglyceridemia management at this age group. The…”
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Clinical and molecular characterization of primary hyperoxaluria in Egypt by Soliman, Neveen A., Elmonem, Mohamed A., Abdelrahman, Safaa M., Nabhan, Marwa M., Fahmy, Yosra A., Cogal, Andrea, Harris, Peter C., Milliner, Dawn S.

“…Primary hyperoxaluria (PH) is an autosomal recessive disorder of oxalate metabolism caused by pathogenic variants in either of three genes ( AGXT , GRHPR or…”
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Editorial: Newborn Screening for Inborn Errors of Metabolism: Is It Time for a Globalized Perspective Based on Genetic Screening? by Elmonem, Mohamed A., van den Heuvel, Lambertus P.

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Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair by David, Dries, Princiero Berlingerio, Sante, Elmonem, Mohamed A, Oliveira Arcolino, Fanny, Soliman, Neveen, van den Heuvel, Bert, Gijsbers, Rik, Levtchenko, Elena

“…Mutations in the CTNS gene encoding the lysosomal membrane cystine transporter cystinosin are the cause of cystinosis, an autosomal recessive lysosomal storage…”
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Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies by Elmonem, Mohamed A, Veys, Koenraad R P, Prencipe, Giusi

“…The activation of several inflammatory pathways has recently been documented in patients and different cellular and animal models of nephropathic cystinosis…”
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Pituitary adenylate cyclase-activating polypeptide (PACAP) in zebrafish models of nephrotic syndrome by Eneman, Benedicte, Elmonem, Mohamed A, van den Heuvel, Lambertus P, Khodaparast, Laleh, Khodaparast, Ladan, van Geet, Chris, Freson, Kathleen, Levtchenko, Elena

“…Pituitary adenylate cyclase-activating polypeptide (PACAP) is an inhibitor of megakaryopoiesis and platelet function. Recently, PACAP deficiency was observed…”
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Role of biomarkers of inflammation and MRI technique for the early detection of cystinosis-associated myopathy by Helmy, Rasha, Mahmoud, Rasha Selim, Elmonem, Mohamed A., Emadeldin, Sally, Soliman, Neveen Abd Elmonem

“…Background Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ…”
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Immunomodulatory Effects of Chitotriosidase Enzyme by Elmonem, Mohamed A., van den Heuvel, Lambertus P., Levtchenko, Elena N.

“…Chitotriosidase enzyme (EC: 3.2.1.14) is the major active chitinase in the human body. It is produced mainly by activated macrophages, in which its expression…”
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Growth hormone therapy response in children with short stature by Gad, Amira Ahmed, Shamma, Radwa, Elmonem, Mohamed A., Badawi, Nora E., Fawaz, Lubna, Hassan, Mona Mamdouh

“…Background Short stature is one of the main causes of children referral to pediatric endocrinologists. Common etiologies include idiopathic growth hormone…”
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Early myocardial functional abnormalities in primary dyslipidemia: clinical and echocardiographic observations in young children from a highly consanguineous population by El-Koofy, Nehal M, Fattouh, Aya M, Ramadan, Areef, Elmonem, Mohamed A, Hamed, Dina H

“…Dyslipidemia is a major health problem among children and adolescents worldwide due to its significant association with cardiovascular disease. Primary…”
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Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study by Hassan, Fayza A, El-Mougy, Fatma, Sharaf, Sahar A, Mandour, Iman, Morgan, Marian F, Selim, Laila A, Hassan, Sawsan A, Salem, Fadia, Oraby, Azza, Girgis, Marian Y, Mahmoud, Iman G, El-Badawy, Amira, El-Nekhely, Ibrahim, Moharam, Nadia, Mehaney, Dina A, Elmonem, Mohamed A

“…To estimate the burden of metabolic disorders detectable by tandem mass spectrometry in Egypt, through a pilot expanded newborn screening programme at Cairo…”
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Clinical and biochemical spectrum of metabolic cardiomyopathy in Egyptian children by Salah Seliem, Zeinab, Ahmed Mehaney, Dina, Abd elmoteleb Selim, Laila, Ali El-Saiedi, Sonia, Ibrahim Ismail, Reem, Magdi Almenabawy, Nihal, Ibrahim Ammar, Rasha, AbdElsattar Saad, Inas, Mosad Soliman, Mohammed, A Elmonem, Mohamed

“…Background: Inborn errors of metabolism (IEMs) commonly present with pediatric cardiomyopathy. Identification of the underlying cause is necessary as it may…”
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Genetic Renal Diseases: The Emerging Role of Zebrafish Models by Elmonem, Mohamed A, Berlingerio, Sante Princiero, van den Heuvel, Lambertus P, de Witte, Peter A, Lowe, Martin, Levtchenko, Elena N

“…The structural and functional similarity of the larval zebrafish pronephros to the human nephron, together with the recent development of easier and more…”
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Urine-Derived Epithelial Cells as Models for Genetic Kidney Diseases by Bondue, Tjessa, Arcolino, Fanny O., Veys, Koenraad R. P., Adebayo, Oyindamola C., Levtchenko, Elena, van den Heuvel, Lambertus P., Elmonem, Mohamed A.

“…Epithelial cells exfoliated in human urine can include cells anywhere from the urinary tract and kidneys; however, podocytes and proximal tubular epithelial…”
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Frequency of Hepatitis A virus as a cause of anicteric hepatitis in children under 5 years: a common yet under-recognized cause by Yassin, Noha A., El-Houchi, Salma Z., Abd El-Shafy, Sarah F., Soliman, Noha S., Elmonem, Mohamed A., El-Koofy, Nehal

“…Background Hepatitis A is the most common form of acute viral hepatitis in developing countries. In children < 6 years of age, most infections are…”
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APOL1 Risk Genotypes Are Associated With Early Kidney Damage in Children in Sub-Saharan Africa by Ekulu, Pepe M, Nkoy, Agathe B, Betukumesu, Dieumerci K, Aloni, Michel N, Makulo, Jean Robert R, Sumaili, Ernest K, Mafuta, Eric M, Elmonem, Mohamed A, Arcolino, Fanny O, Kitetele, Faustin N, Lepira, François B, van den Heuvel, Lambertus P, Levtchenko, Elena N

“…Apolipoprotein-L1 ( ) risk variants G1 and G2 increase the risk of chronic kidney disease (CKD), including HIV-related CKD, among African Americans. However,…”
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Plasma chitotriosidase and carotid intima–media thickness in children with sickle cell disease by Kaddah, Normeen A., Saied, Dalia A., Alwakeel, Hanan A., Hashem, Rania H., Rowizak, Sara M., Elmonem, Mohamed A.

“…The relationship between chronic hemolysis with subsequent iron overload, inflammation, and premature atherosclerosis has been documented in hemolytic anemias,…”
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