[Phenotypical manifestations of cystinuria: a study of 20 families in the Community of Valencia].

No abstract is available for this paper.

• Publication year

  2000

• Venue

  Medicina clínica (Ed. impresa)

• Publication date

  Unknown publication date

• Fields of study

  Medicine

• Identifiers
  PMID 11141402
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• [Genetic and molecular study of cystinuria in the Valencian community].

  1999cited by this paper
• Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

  1999cited by this paper
• Reference values of urinary excretion of cystine and dibasic aminoacids: classification of patients with cystinuria in the Valencian Community, Spain.

  1999cited by this paper
• Cystinuria subtype and the risk of nephrolithiasis.

  1998cited by this paper
• Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype.

  1998cited by this paper
• Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q.

  1997cited by this paper
• Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

  1997cited by this paper
• Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

  1996cited by this paper
• Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

  1994cited by this paper
• Prospective analysis and classification of patients with cystinuria identified in a newborn screening program.

  1993cited by this paper
• Use of silica gel polymer for DNA extraction with organic solvents.

  1989cited by this paper
• Determination of aromatic and neutral aminoacids by HPLC in blood specimens collected on filter paper.

  1987cited by this paper
• Urolithiasis in childhood.

  1987cited by this paper
• Cystinuria genotypes predicted from excretion patterns.

  1978cited by this paper
• Genetics of cystinuria in an inbred population.

  1978cited by this paper
• Clinical features and management of cystinuria.

  1977cited by this paper
• Pediatric nephrolithiasis.

  1975cited by this paper
• Proceedings: Rarity of cystinuria type I among cystinuric Jews of Libyan origin.

  1975cited by this paper
• Cystinuria: biochemical evidence for three genetically distinct diseases.

  1966cited by this paper
• PHENOTYPES AND GENOTYPES IN CYSTINURIA

  1955cited by this paper

• [SLC7A9 gene variation: impact of 13 frequent mutations in the etiology of cystinuria in a Spanish Mediterranean population].

  2006cites this paper
• [Cystinuria].

  2003cites this paper