PHENOTYPES AND GENOTYPES IN CYSTINURIA

No abstract is available for this paper.

• Publication year

  1955

• Venue

  Annals of Human Genetics

• Publication date

  1955-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1111/j.1469-1809.1955.tb01278.xPMID 13249226
• 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.

• THE PATTERN OF AMINO‐ACID EXCRETION IN CYSTINURIA

  1955cited by this paper
• Separations of basic amino acids by ionophoresis in filter paper.

  1954cited by this paper
• Quantitative studies on the urinary cystine in patients with cystine stone formation and in their relatives.

  1953cited by this paper
• Chromatography of amino acids on sulfonated polystyrene resins.

  1951cited by this paper
• The genetics of cystinuria.

  1951cited by this paper

• The genetics of cystinuria - an update and critical reevaluation.

  2023cites this paper
• Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study

  2020cites this paper
• Amino Acid Transport Across the Mammalian Intestine.

  2018cites this paper
• Cystinuria

  2014cites this paper
• Modern Stone Science

  2014cites this paper
• Studien zum Transport von Schilddrüsenhormonen durch Membrantransporter derMCT- und LAT-Familie

  2011cites this paper
• Penicillamine treatment of cystinuria.

  2009cites this paper
• Pediatric stone disease

  2009cites this paper
• Garrod’s Croonian Lectures (1908) and the charter ‘Inborn Errors of Metabolism’: Albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008

  2008cites this paper
• Amino acid transport across mammalian intestinal and renal epithelia.

  2008cites this paper
• Sir Archibald Garrod's "'Inborn Errors of Metabolism"

  2007cites this paper
• Molecular genetic studies on cystinuria

  2007cites this paper
• Cystine Stone Disease

  2007cites this paper
• Towards a broader use of phototesting : in research, clinical practice and skin cancer prevention

  2007cites this paper
• Sir Archibald Garrod's "Inborn Errors of Metabolism" I. Cystinuria

  2007influential citation
• Management of cystinuria.

  2007cites this paper
• Cystine calculi: challenging group of stones

  2006cites this paper
• Analysis of a 1‐year‐old cystinuric patient with recurrent renal stones

  2006cites this paper
• Reabsorció renal d'aminoàcids: anàlisi de mutacions de SLC7A9, el gen de cistinúria de tipus B, i generació d'un model murí "knockout" de Slc7a8

  2005cites this paper
• Adenosine deaminase deficiency

  2005cites this paper
• Transient neonatal cystinuria.

  2005cites this paper
• Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes

  2004cites this paper
• The Molecular Basis of Cystinuria

  2004cites this paper
• Actualización de la cistinuria: aspectos clínicos, bioquímicos y genéticos

  2003cites this paper
• Cystinuria and other noncalcareous calculi.

  2002cites this paper
• Garrod's foresight; our hindsight

  2001cites this paper
• Henry Friesen Award Lecture. Work, the clinician-scientist and human biochemical genetics.

  2001cites this paper
• Medical and surgical therapy of the cystine stone patient

  2001cites this paper
• The Molecular Basis of Cystinuria: An Update

  2000cites this paper
• Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria

  2000cites this paper
• [Phenotypical manifestations of cystinuria: a study of 20 families in the Community of Valencia].

  2000cites this paper
• Advances in genetic aspects of cystinuria.

  2000cites this paper
• [Cystine calculi. Prevention with captopril. Clinical case].

  2000cites this paper
• Cálculo de cistina. Profilaxis con captopril. caso clínico

  2000cites this paper
• Manifestaciones fenotípicas de la cistinuria: estudio de 20 familias en la Comunidad Valenciana

  2000cites this paper
• Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs

  2000cites this paper
• Contemporary Management of Cystinuria

  1999cites this paper
• Linkage of type II and type III cystinuria to 19q13.1: codominant inheritance of two cystinuric alleles at 19q13.1 produces an extreme stone-forming phenotype.

  1999cites this paper
• [Clinical study on cystinuria in children--the stone management and the prevention of calculi recurrence].

  1998cites this paper
• The value of family screening for patients with cystine stone disease in northern Jordan.

  1998cites this paper
• Cystine calculi. Diagnosis and management.

  1997cites this paper
• Cystinuria: recent advances in pathophysiology and genetics.

  1997cites this paper
• Recent advances in the biochemical and molecular biological basis of cystinuria.

  1996cites this paper
• Etiology and management of cystine lithiasis.

  1995cites this paper
• Living history--biography.

  1995cites this paper
• [Advancements in the genetics of cystinuria].

  1995cites this paper
• Mendelian Phenotypes as “Probes” of Renal Transport Systems for Amino Acids and Phosphate

  1991cites this paper
• A case of nephrotic syndrome due to alpha-mercaptopropionyl glycine in a patient with familial cystinuria.

  1990cites this paper
• Hereditary Tubular Transport Abnormalities

  1990cites this paper
• Cystinuria.

  1990cites this paper
• Cystinuria and its treatment: 25 years experience at St. Bartholomew's hospital

  1989cites this paper
• [Distribution of cystinuria subtypes in the Democratic Republic of Germany].

  1988cites this paper
• Cystinuria.

  1988cites this paper
• Management of the patient with cystinuria.

  1987cites this paper
• Drug Therapy of Urinary Calculi and Prevention of Recurrence

  1986cites this paper
• Renal Tubular Defects in Phosphate and Amino Acid Transport

  1986cites this paper
• Cystinuria.

  1986cites this paper
• Renal failure in sisters with cystinuria and the management of amino acids in chronic hemodialysis.

  1985cites this paper
• Ontogeny modifies manifestations of cystinuria genes: implications for counseling.

  1985cites this paper
• Ureolytic Citrobacter freundii infection of the urine as a cause of dissolution of cystine renal calculi.

  1985cites this paper
• Heterozygous cystinuria and urinary lithiasis.

  1985cites this paper
• Clinical consequences of heterozygosity for autosomal‐recessive diseases*,**

  1984cites this paper
• A case of cystinuria with nephrotic syndrome.

  1984cites this paper
• Epidemiologische und genealogische Studie der Zystinurie und Zystinstein-Krankheit an 255 Fällen.

  1982cites this paper
• Cystine crystalluria and urinary saturation in cystine and non-cystine stone formers

  1982cites this paper
• Modelling of electrolyte transport in renal and intestinal epithelia

  1982cites this paper
• Cystinuria: the disease and its models.

  1981cites this paper
• Some observations on genetic factors in urolithiasis.

  1981cites this paper
• Chromatographic screening for cystinuria among newborns

  1980cites this paper
• Heterozygous cystinuria and calcium oxalate urolithiasis.

  1979cites this paper
• Cystine calculi in a caracal lynx (Felis caracal).

  1979cites this paper
• Medical Treatment for Cystinuria: Case Material and Results

  1979cites this paper
• Cystinuria and Cystine Lithiasis

  1979cites this paper
• [Study of a family with cystinuria and criticism of the screening methods].

  1979cites this paper
• Genetic Determination of Membrane Transport

  1978cites this paper
• Cystinuria genotypes predicted from excretion patterns.

  1978cites this paper
• [Hereditary pancreatitis. Afamily with 4 affected members (author's transl)].

  1977cites this paper
• Clinical features and management of cystinuria.

  1977cites this paper
• Metabolic causes of renal stone formation.

  1977cites this paper
• [Cystine lithiasis. Report of a case with severe neuro-psychic disturbances. Discussion of the effects of anti-lithiasic treatment].

  1976cites this paper
• [Clinical aspects of cystinuria and its treatment by thiola (author's transl)].

  1976cites this paper
• [Some hereditary disorders of intestinal resorption with renal dysfunction].

  1976cites this paper
• Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family.

  1976cites this paper
• Hyperdibasicaminoaciduria and hyperammonemia in familial protein intolerance.

  1976cites this paper
• A study of the renal handling and intestinal absorption of dibasic amino acids in a patient with genotype +/11 heterozygous cystinuria and idiopathic hypercalcuria.

  1975cites this paper
• Jejunal and ileal absorption of dibasic amino acids and an arginine-containing dipeptide in cystinuria.

  1975cites this paper
• [Urolithiasis in infancy. Case reports. Notes on etiopathogenesis, clinical aspects, diagnosis and therapy].

  1975cites this paper
• Renal transport of amino acids.

  1975cites this paper
• Phenylketonuria in a patient with cystinuria

  1975cites this paper
• Urinary amino acid patterns in cystinuric families.

  1974cites this paper
• The Genetic Control of Membrane Transport

  1974cites this paper
• [The frequency of increased excretion of cystine among school children in Zürich].

  1974cites this paper
• Cystinuria with mental retardation and paroxysmal dyskinesia in 2 brothers.

  1974cites this paper
• Amino acid excretion studies in a cystinuric family.

  1973cites this paper
• Hereditary pancreatitis: three new kindreds and a critical review of the literature.

  1973cites this paper
• Genetic screening.

  1973cites this paper
• Biochemical and genetic studies in cystinuria: observations on double heterozygotes of genotype I-II.

  1971cites this paper
• Chronic Relapsing Pancreatitis in Childhood: Case Report and Review of the Literature

  1971cites this paper
• URINARY CALCULI CLINICAL, BIOCHEMICAL AND RADIOLOGICAL STUDIES IN 619 PATIENTS

  1971cites this paper
• Genetical studies on active transport.

  1971cites this paper