Delineation of cystinuria in Saudi Arabia: A case series

[1]  M. Alfadhel,et al.  Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia , 2016, Orphanet Journal of Rare Diseases.

[2]  P. Osther,et al.  How should patients with cystine stone disease be evaluated and treated in the twenty-first century? , 2016, Urolithiasis.

[3]  R. Salehi,et al.  Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria , 2015, Urolithiasis.

[4]  R. Bayoumi,et al.  Urinary stone composition in Oman: with high incidence of cystinuria , 2015, Urolithiasis.

[5]  M. Turki,et al.  MINISTRY OF NATIONAL GUARD HEALTH AFFAIRS , 2015 .

[6]  M. Ibrahim,et al.  Urinary cystine calculi and detection of polymorphism in the SLC3A1 gene in Sudanese children , 2014 .

[7]  Jun Liu,et al.  SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. , 2013, Journal of veterinary internal medicine.

[8]  K. Zerres,et al.  Cystinuria: an inborn cause of urolithiasis , 2012, Orphanet Journal of Rare Diseases.

[9]  E. Martins,et al.  Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients , 2012, Clinical genetics.

[10]  I. Georgiou,et al.  An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients. , 2008, Molecular genetics and metabolism.

[11]  P. Alken,et al.  Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up , 2004, Pediatric Nephrology.

[12]  B. Al-Hermi,et al.  Cystinuria in arab countries. , 2003, Saudi Journal of Kidney Diseases and Transplantation.

[13]  K. Zerres,et al.  Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. , 2002, Kidney international.

[14]  M. Gallucci,et al.  Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. , 2002, Journal of the American Society of Nephrology : JASN.

[15]  E. Pras Cystinuria at the turn of the millennium: clinical aspects and new molecular developments. , 2000, Molecular urology.

[16]  X. Estivill,et al.  Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT , 1999, Nature Genetics.

[17]  B. Reed,et al.  Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria. , 1998, The Journal of clinical endocrinology and metabolism.

[18]  A. Pierides,et al.  Clinical aspects of cystinuria. , 1997, Contributions to nephrology.

[19]  X. Estivill,et al.  Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine , 1994, Nature Genetics.

[20]  J. H. van den Berg,et al.  Clinical features and management of cystinuria. , 1977 .

[21]  L. Smith,et al.  Clinical features and management of cystinuria. , 1977, Mayo Clinic proceedings.