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1. Global burden of 288 causes of death and life expectancy decomposition in 204 countries and territories and 811 subnational locations, 1990–2021: a systematic analysis for the Global Burden of Disease Study 2021

2. Global, regional, and national burden of hepatitis B, 1990-2019: a systematic analysis for the Global Burden of Disease Study 2019

3. Diabetes mortality and trends before 25 years of age: an analysis of the Global Burden of Disease Study 2019

4. Population-level risks of alcohol consumption by amount, geography, age, sex, and year: a systematic analysis for the Global Burden of Disease Study 2020

5. Population-level risks of alcohol consumption by amount, geography, age, sex, and year: a systematic analysis for the Global Burden of Disease Study 2020

6. Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease.

7. RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.

8. Egypt Genome: Towards an African new genomic era.

9. The Egypt Genome Project.

10. Plasma chitotriosidase enzyme activity as a novel therapeutic monitor for cysteamine treatment in nephropathic cystinosis: A retrospective validation study.

11. Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.

13. Serum matrix metalloproteinase-9 (MMP9) and amyloid-beta protein precursor (APP) as potential biomarkers in children with Fragile-X syndrome: A cross sectional study.

14. Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria.

15. Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.

16. Clinical and molecular characterization of primary hyperoxaluria in Egypt.

17. Early myocardial functional abnormalities in primary dyslipidemia: clinical and echocardiographic observations in young children from a highly consanguineous population.

18. Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis.

19. Clinical and biochemical spectrum of metabolic cardiomyopathy in Egyptian children.

20. Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies.

21. Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis.

22. A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion.

25. Novel Human Podocyte Cell Model Carrying G2/G2 APOL1 High-Risk Genotype.

26. Urine-Derived Epithelial Cells as Models for Genetic Kidney Diseases.

28. Management strategy and novel ophthalmological findings in neonatal severe hypertriglyceridemia: a case report and literature review.

29. The impact of omeprazole on mycophenolate pharmacokinetics in kidney transplant recipients.

30. ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.

31. The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.

32. Novel biomarkers for lysosomal storage disorders: Metabolomic and proteomic approaches.

33. Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis.

34. Chitotriosidase as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis.

35. Enhanced Intrinsic Skin Aging in Nephropathic Cystinosis Assessed by High-Definition Optical Coherence Tomography.

36. APOL1 Risk Genotypes Are Associated With Early Kidney Damage in Children in Sub-Saharan Africa.

37. Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.

38. Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.

39. Allogeneic HSCT transfers wild-type cystinosin to nonhematological epithelial cells in cystinosis: First human report.

40. Genetic Renal Diseases: The Emerging Role of Zebrafish Models.

41. Connective tissue growth factor (CTGF) from basics to clinics.

42. Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops.

43. Plasma chitotriosidase and carotid intima-media thickness in children with sickle cell disease.

44. Pituitary adenylate cyclase-activating polypeptide (PACAP) in zebrafish models of nephrotic syndrome.

45. Nephropathic cystinosis: an update.

46. Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.

47. A Human Proximal Tubular Epithelial Cell Model to Explore a Knowledge Gap on Neonatal Drug Disposition.

48. Molecular screening of CFTR gene in Egyptian patients with congenital bilateral absence of the vas deferens: a preliminary study.

49. Ca(2+) signalling in human proximal tubular epithelial cells deficient for cystinosin.

50. Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.

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