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Toplam kayıt 180, listelenen: 31-40
Guidelines For The Genetic Diagnosis Of Hereditary Recurrent Fevers
(2012)
Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the ...
International Consensus on (Icon) Pediatric Asthma
(Wiley, 2012)
Asthma is the most common chronic lower respiratory disease in childhood throughout the world. Several guidelines and/or consensus documents are available to support medical decisions on pediatric asthma. Although there ...
Different Features Of Lung Involvement In Niemann-Pick Disease And Gaucher Disease
(W B Saunders Co Ltd, 2012)
Background: Niemann-Pick disease (NPD) and Gaucher disease (GD) are well-known lysosomal storage diseases. Respiratory system involvement is an important cause of morbidity and mortality in patients with NPD and GD. ...
Hypophosphatasia Presenting With Pyridoxine-Responsive Seizures, Hypercalcemia, And Pseudotumor Cerebri: Case Report
(2012)
Hypophosphatasia (HPP) is an inborn error of metabolism characterized by defective bone mineralization caused by a deficiency in alkaline phosphatase (ALP) activity due to mutations in the tissue-nonspecific ALP (TNALP) ...
Hypertrophic Olivary Degeneration In Children: Four New Cases And A Review Of The Literature With An Emphasis On The Mri Findings
(British Inst Radiology, 2012)
Injury to the dentato-rubro-olivary pathway causes hypertrophy and enlargement of the inferior olivary nuclei, which is called hypertrophic olivary degeneration (HOD). To date, adult cases of HOD have usually been reported, ...
Two Otolaryngologic Cases Of Munchausen'S Syndrome
(Ortadogu Ad Pres & Publ Co, 2012)
Munchausen's Syndrome is characterized by repeated attempts to be hospitalized following an extremely credible and dramatic representation of physical symptoms. This syndrome is commonly known as a factitious disorder. ...