Nasal nitric oxide (nNO) is extremely low in most people with primary ciliary dyskinesia
(PCD) and its measurement is an important contributor to making the diagnosis. Existing …

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder with defective
structure and/or function of motile cilia/flagella, causing chronic upper and lower respiratory …

Nasal nitric oxide concentrations are extremely low in primary ciliary dyskinesia (PCD), and
measurement of this nasal gas is recommended as a PCD diagnostic test in cooperative …

Background Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by
impaired ciliary function, leading to chronic sinopulmonary disease. The genetic causes of …

Diagnosis of primary ciliary dyskinesia (PCD) lacks a “gold standard” test and is therefore
based on combinations of tests including nasal nitric oxide (nNO), high-speed video …

Background Biliary atresia (BA) is the most common obstructive cholangiopathy in neonates,
often progressing to end-stage cirrhosis. BA pathogenesis is believed to be multifactorial …

Nasal nitric oxide (nNO) concentrations are low in patients with primary ciliary dyskinesia
(PCD) providing a noninvasive screening test. We conducted a systematic review of the …

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic
upper and lower airway disease. Fundamental data on epidemiology, clinical presentation …

Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is
predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal …

Despite recent progress in defining the ciliome, the genetic basis for many cases of primary
ciliary dyskinesia (PCD) remains elusive. We evaluated five children from two unrelated …