Work

Comprehensive Mutation Screening in 55 Probands with Type 1 Primary Hyperoxaluria Shows Feasibility of a Gene-Based Diagnosis

Year: 2007

Type: article

Study design: Observational Study

Source: Journal of the American Society of Nephrology

DOI: 10.1681/asn.2006111230

Authors: Carla G. Monico, Sandro Rossetti, Heidi A. Schwanz, Julie B. Olson, Patrick A. Lundquist, D. Brian Dawson, Peter C. Harris, Dawn S. Milliner

Institutions: Mayo Clinic, Luther College

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Oxalosis and Hyperoxaluria Foundation, National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases

Awards: Influence of genotype on urinary oxalate excretion, G2844476618, Prevention of Renal Damage in Primary Hyperoxaluria, G6044293349

OpenAlex ID: W2003114434

FWCI: 3.71

Cites: 38

Cited by: 63

Related to: 10