Literature reports

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Abetalipoproteinemia: two case reports and literature review

Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy, posterior column neuropathy and myopathy. ABL results from mutations in the gene encoding the large ...

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Harnessing Scientific Literature Reports for Pharmacovigilance

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Langerhans’ Caenldl histiocytosis: case reports literature review

L angerhans’ cell histiocytosis (LCH), formerly known as histiocytosis X, is one of a group of poorly understood diseases of histiocytes. The clinical spectrum of disease ranges from the chronic, localized form to an acute leukemia-like disease with a fatal outcome. Alfred Hand was the first to report a case of histiocytosis in 1893.1 Later, in 1941, Farber described this condition when reporti...

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Madelung's disease: case reports and literature review.

Multiple symmetric lipomatosis, also known as Madelung’s disease or LaunoisBensaude syndrome, is a rare entity characterized by painless, subcutaneous diffuse deposition of adipose tissue on the neck, upper trunk, arms and legs. Historically, Madelung’s disease has been most frequently observed in men (male-female ratio = 15:1) aged between 30 and 60 years. The disease prevalence is increased a...

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Case Reports: Stories Worth Telling in Today`s Bone and Joint Literature

Case reports are considered as the lowest level of evidence while at the same time they are frontiers of evidence collection. case reports are professional stories about novel medical events and will worth publication only if they possess complexity, proper data collection, justified diagnosis, and legitimate intervention as well as appropriate language, punctuation, and syntax. A case report m...

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ژورنال

عنوان ژورنال: Časopis pro pěstování matematiky a fysiky

سال: 1917

ISSN: 1802-114X

DOI: 10.21136/cpmf.1917.123717