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Academic Journal

Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening.

Subjects: ANALYSIS of variance; MEDICAL screening; CYSTINURIA

  • Source: Pediatric Nephrology. May2023, Vol. 38 Issue 5, p1513-1521. 9p. 4 Charts.

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Academic Journal

Cystinuria: an update on pathophysiology, genetics, and clinical management.

Subjects: CHRONIC kidney failure; GENETICS; CYSTINURIA

  • Source: Pediatric Nephrology. Aug2022, Vol. 37 Issue 8, p1705-1711. 7p. 1 Diagram, 2 Charts.

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Academic Journal

Antenatal Hyperechogenic Colon and Cystinuria.

Subjects: AMINO acid analysis; PHYSICAL diagnosis; COLON (Anatomy)

  • Source: Clinical Pediatrics. Jun2023, Vol. 62 Issue 6, p548-550. 3p.

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Academic Journal

Cystinuria: mechanisms and management.

Subjects: DRUG monitoring; CYSTINURIA; GENETICS

  • Source: Pediatric Nephrology. Nov2012, Vol. 27 Issue 11, p2031-2038. 8p. 1 Color Photograph, 5 Charts, 1 Graph.

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Academic Journal

Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.

Subjects: CYSTINURIA; GENEALOGY; GENETIC techniques

  • Source: Pediatric Nephrology. Jan2014, Vol. 29 Issue 1, p155-159. 5p. 1 Diagram, 1 Chart.

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Academic Journal

Case Study Case Studies in Cystinuria.

Subjects: KIDNEY stone prevention; CHRONIC pain; COMPUTED tomography

  • Source: Urologic Nursing. Mar/Apr2017, Vol. 37 Issue 2, p90-93. 4p.

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Academic Journal

Cystinuria in children and young adults: success of monitoring free-cystine urine levels.

Subjects: CYSTINURIA; AMINO acid metabolism disorders; KIDNEY diseases

  • Source: Pediatric Nephrology. Nov2007, Vol. 22 Issue 11, p1869-1873. 5p. 2 Charts, 2 Graphs.

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Academic Journal

Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome.

Subjects: AMINO acid metabolism disorders; CYSTINURIA; FAILURE to thrive syndrome

  • Source: European Journal of Human Genetics. Oct2007, Vol. 15 Issue 10, p1029-1033. 5p. 2 Diagrams, 1 Chart, 1 Graph.

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Academic Journal

Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria.

Subjects: CYSTINURIA; KIDNEY stones; AMINO acids

  • Source: Pediatric Nephrology. Apr2000, Vol. 14 Issue 5, p376-384. 9p. 1 Diagram, 4 Graphs.

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Academic Journal

Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up.

Subjects: CYSTINURIA; KIDNEY diseases; AMINO acid metabolism disorders

  • Source: Pediatric Nephrology. Jan2005, Vol. 20 Issue 1, p19-24. 6p.

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  • 1-10 of  281 results for ""Cystinuria""