The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening

References

1. 1.↵
   1. Morris AA,
   2. Kožich V,
   3. Santra S,
   4. Andria G,
   5. Ben-Omran TI,
   6. Chakrapani AB, et al.

   Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis 2017; 40: 49-74.

   OpenUrlCrossRef
2. 2.↵
   1. Moretti R,
   2. Caruso P.

   The controversial role of homocysteine in neurology: from labs to clinical practice. Int J Mol Sci 2019; 20: 231.

   OpenUrlPubMed
3. 3.↵
   1. Voskoboeva E,
   2. Semyachkina A,
   3. Yablonskaya M,
   4. Nikolaeva E.

   Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization. Mol Genet Metab Rep 2017; 14: 47-54.

   OpenUrl
4. 4.↵
   1. Kumar T,
   2. Sharma GS,
   3. Singh LR.

   Homocystinuria: Therapeutic approach. Clin Chim Acta 2016; 458: 55-62.

   OpenUrl
5. 5.↵
   1. Mohamed S,
   2. Elsheikh W,
   3. Al-Aqeel AI,
   4. Alhashem AM,
   5. Alodaib A,
   6. Alahaideb L, et al.

   Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study. Saudi Med J 2020; 41: 703-708.

   OpenUrlAbstract/FREE Full Text
6. 6.↵
   1. Alfadhel M,
   2. Al Othaim A,
   3. Al Saif S,
   4. Al Mutairi F,
   5. Alsayed M,
   6. Rahbeeni Z, et al.

   Expanded newborn screening program in Saudi Arabia: Incidence of screened disorders. J Paediatr Child Health 2017; 53: 585-591.

   OpenUrl
7. 7.↵
   1. Walter D,
   2. Adeloye D,
   3. Woolham D,
   4. Westnedge E,
   5. Patel S,
   6. Rudan I.

   Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence. J Glob Health 2018; 8: 021102.

   OpenUrl
8. 8.↵
   1. Bener A,
   2. Mohammad R.

   Global distribution of consanguinity and their impact on complex diseases: Genetic disorders from an endogamous population. Egypt J Med Hum Genet 2017; 18: 315-320.

   OpenUrl
9. 9.↵
   1. Zaidi SH,
   2. Faiyaz-Ul-Haque M,
   3. Shuaib T,
   4. Balobaid A,
   5. Rahbeeni Z,
   6. Abalkhail H, et al.

   Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria. Clin Genet 2012; 81: 563-570.

   OpenUrlPubMed
10. 10.↵
    1. Gan-Schreier H,
    2. Kebbewar M,
    3. Fang-Hoffmann J,
    4. Wilrich J,
    5. Abdoh G,
    6. Ben-Omran T, et al.

    Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. J Pediatr 2010; 156: 427-432.

    OpenUrlCrossRefPubMedWeb of Science