FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1569555903> ?p ?o ?g. }

• W1569555903 abstract "Cystic fibrosis (CF) is the most common life-threatening autosomal recessive genetic disease among the Caucasian population, with an estimated incidence throughout the world of between 0.25 5 per 10,000 live births (Lewis et al., 1995). It is caused by mutations on both CF transmembrane conductance regulator (CFTR) alleles, resulting in pancreatic exocrine insufficiency in 95% of patients, abnormal sweat electrolytes, sino-pulmonary disease and male infertility (MacCready, 1963). In its classic form, this multi-system disease is characterized by one or more of several features varying in severity, including a progressive decline of pulmonary function secondary to chronic lung infections, pancreatic exocrine insufficiency leading to malnutrition and growth impairment, liver disease, and decreased reabsorption of chloride ions from sweat (Zielenski et al., 2000). The disease is easily diagnosed early in life, through a combination of clinical evaluation and laboratory testing including sweat testing and CFTR mutation analysis (Ross, 2008). However, 7% of CF patients are not diagnosed until age 10 years, with a proportion not diagnosed until after age 15 years. Because the phenotype in these patients may vary widely some of these patients present a considerable challenge in establishing a diagnosis of CF (Wilcken et al., 1995; Hammond et al., 1991)." @default.
• W1569555903 created "2016-06-24" @default.
• W1569555903 creator A5026609960 @default.
• W1569555903 date "2012-03-28" @default.
• W1569555903 modified "2023-10-18" @default.
• W1569555903 title "Biochemical and Molecular Genetic Testing Used in the Diagnosis and Assessment of Cystic Fibrosis" @default.
• W1569555903 cites W119119808 @default.
• W1569555903 cites W1484392662 @default.
• W1569555903 cites W1511128892 @default.
• W1569555903 cites W1549773614 @default.
• W1569555903 cites W1723108836 @default.
• W1569555903 cites W172578818 @default.
• W1569555903 cites W1745204207 @default.
• W1569555903 cites W185124257 @default.
• W1569555903 cites W1934589322 @default.
• W1569555903 cites W1946951765 @default.
• W1569555903 cites W1963571125 @default.
• W1569555903 cites W1965732133 @default.
• W1569555903 cites W1968403864 @default.
• W1569555903 cites W1969504328 @default.
• W1569555903 cites W1971814887 @default.
• W1569555903 cites W1977526399 @default.
• W1569555903 cites W1977682490 @default.
• W1569555903 cites W1978613594 @default.
• W1569555903 cites W1978991565 @default.
• W1569555903 cites W1979721585 @default.
• W1569555903 cites W1979771697 @default.
• W1569555903 cites W1981933466 @default.
• W1569555903 cites W1982560295 @default.
• W1569555903 cites W1982871279 @default.
• W1569555903 cites W1985983755 @default.
• W1569555903 cites W1989770637 @default.
• W1569555903 cites W1990082800 @default.
• W1569555903 cites W1990670389 @default.
• W1569555903 cites W1991269597 @default.
• W1569555903 cites W1991812860 @default.
• W1569555903 cites W1992411475 @default.
• W1569555903 cites W1992734341 @default.
• W1569555903 cites W1993117409 @default.
• W1569555903 cites W1994311253 @default.
• W1569555903 cites W1997092421 @default.
• W1569555903 cites W1997396537 @default.
• W1569555903 cites W1997845597 @default.
• W1569555903 cites W1998612843 @default.
• W1569555903 cites W2001551679 @default.
• W1569555903 cites W2002451039 @default.
• W1569555903 cites W2003559527 @default.
• W1569555903 cites W2009512908 @default.
• W1569555903 cites W2011032547 @default.
• W1569555903 cites W2015160508 @default.
• W1569555903 cites W2015438071 @default.
• W1569555903 cites W2015621551 @default.
• W1569555903 cites W2015692752 @default.
• W1569555903 cites W2016073646 @default.
• W1569555903 cites W2017742508 @default.
• W1569555903 cites W2018942172 @default.
• W1569555903 cites W2020494747 @default.
• W1569555903 cites W2021193933 @default.
• W1569555903 cites W2024025918 @default.
• W1569555903 cites W2024576596 @default.
• W1569555903 cites W2030524479 @default.
• W1569555903 cites W2030829659 @default.
• W1569555903 cites W2032976379 @default.
• W1569555903 cites W2034685372 @default.
• W1569555903 cites W2039258378 @default.
• W1569555903 cites W2039599894 @default.
• W1569555903 cites W2040515029 @default.
• W1569555903 cites W2042027303 @default.
• W1569555903 cites W2048695956 @default.
• W1569555903 cites W2048754714 @default.
• W1569555903 cites W2051086778 @default.
• W1569555903 cites W2053612864 @default.
• W1569555903 cites W2054085849 @default.
• W1569555903 cites W2057074847 @default.
• W1569555903 cites W2059744446 @default.
• W1569555903 cites W2062027913 @default.
• W1569555903 cites W2062137132 @default.
• W1569555903 cites W2062327092 @default.
• W1569555903 cites W2062989041 @default.
• W1569555903 cites W2071649378 @default.
• W1569555903 cites W2073320982 @default.
• W1569555903 cites W2076934605 @default.
• W1569555903 cites W2078475024 @default.
• W1569555903 cites W2081097266 @default.
• W1569555903 cites W2085667581 @default.
• W1569555903 cites W2086630607 @default.
• W1569555903 cites W2088769712 @default.
• W1569555903 cites W2092634207 @default.
• W1569555903 cites W2093330972 @default.
• W1569555903 cites W2094356332 @default.
• W1569555903 cites W2095068652 @default.
• W1569555903 cites W2096244800 @default.
• W1569555903 cites W2098498572 @default.
• W1569555903 cites W2100229864 @default.
• W1569555903 cites W2100543405 @default.
• W1569555903 cites W2103879666 @default.
• W1569555903 cites W2105210942 @default.
• W1569555903 cites W2106537884 @default.
• W1569555903 cites W2108671316 @default.
• W1569555903 cites W2112665737 @default.

• next