All Stories

  1. Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients
  2. Non-ketotic hyperglycinaemia: a frequent, but poorly diagnosed and managed genetic disorder in Tunisia
  3. Altered Semen Quality is Associated with Decreased Semen Docosahexaenoic Acid and Increased Oleic Acid Levels
  4. Semen Creatine and Creatine Kinase Activity as an Indicator of Sperm Quality
  5. Biochemical and clinical profiles of 52 Tunisian patients affected by Zellweger syndrome
  6. X-linked Adrenoleukodystrophy, The Tunisian Experience
  7. Clinical and Biochemical Profile of Tyrosinemia Type 1 in Tunisia
  8. Hemolytic Anemia and Metabolic Acidosis: Think about Glutathione Synthetase Deficiency
  9. Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria
  10. URINARY CREATINE AT REST AND AFTER REPEATED SPRINTS IN ATHLETES: A PILOT STUDY
  11. Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner–Hanhart Syndrome
  12. Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III
  13. 3-Phosphoglycerate Dehydrogenase Deficiency: Description of Two New Cases in Tunisia and Review of the Literature
  14. Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease
  15. GC/MS determination of guanidinoacetate and creatine in urine: A routine method for creatine deficiency syndrome diagnosis
  16. Creatine and Creatine Deficiency Syndromes: Biochemical and Clinical Aspects
  17. Phenylketonuria in Tunisian institutions for the mentally handicapped