Publications by authors named "Celia Badenas Orquin"
The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation.
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- * Protocols were modified, leading to a 36% faster arrival of second samples at the laboratory and a complete elimination of second sample requests for cystic fibrosis detection.
- * The NSP demonstrated strong leadership during the crisis, achieving greater efficiency and successfully consolidating new processes that improved overall program outcomes.
Wilsońs disease is an autosomal recessive disorder characterized by toxic copper accumulation in the liver and subsequently in the brain and other organs. Clinical diagnosis is based on the detection of low serum ceruloplasmin concentrations, increased urinary copper excretion, Kayser-Fleisher rings in the cornea, and/or high copper levels in hepatic tissue. Diagnosis can be difficult when the typical symptoms of the disease are absent, a situation that can lead to a lack of prophylactic therapy in these patients.
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