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Series: Advances in Oto-Rhino-Laryngology
Volume: 84
Published: 31 August 2020
10.1159/000457940
EISBN: 978-3-318-06670-8
... Abstract Sinonasal tumours are rare, and among these there exist a small number of histologic subtypes that are infrequently encountered and rarely mentioned in the literature. These have been presented as either case reports or small case series, and their very low incidence makes prospective...
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Series: Frontiers of Hormone Research
Volume: 46
Published: 23 May 2016
10.1159/000443870
EISBN: 978-3-318-05840-6
...) or central AI are relatively rare conditions. However, iatrogenic AI, i.e. the physiological downregulation of the hypothalamic-pituitary-adrenal axis and adrenal atrophy caused by glucocorticoid treatment for different inflammatory conditions is likely to be considerably more common. The type...
Book Chapter
Series: Endocrine Development
Volume: 30
Published: 10 December 2015
10.1159/000439339
EISBN: 978-3-318-05637-2
... Abstract Gene therapy for rare inherited neurologic diseases has entered the clinics. One strategy relies upon the replacement of brain microglia using hematopoietic stem cell gene therapy with lentiviral vectors. Therapeutic success using this approach has been obtained in X-linked...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363670
EISBN: 978-3-318-02559-0
... Abstract Rare diseases (RDs) affect less than 5 per 10,000 individuals in Europe, while in the USA a rare condition is considered to have a prevalence of fewer than 200,000 affected Americans. RDs stem as one of the most urgent and emerging health problems worldwide, creating a substantial...
Book Chapter
Published: 20 June 2013
10.1159/000346947
EISBN: 978-3-318-02198-1
...References References 1. Blanchette VD, Dean J, Lillicrap D: Rare Congenital Hemorrhagic Disorders;. inLillyman J, Hann I, Blanchette V: Coagulation Disorders London, Churchill Livingstone, 1999; 2. Bolton-Maggs P: The rare inherited coagulation disorders (review). Pediatr Blood Cancer...
Book Chapter
Series: Endocrine Development
Volume: 20
Published: 17 December 2010
10.1159/000321215
EISBN: 978-3-8055-9644-2
... course suggested a P450scc defect following an autosomal-recessive pattern of inheritance [ 7 ]. Up to 1986, a total of 32 individuals believed to have P450scc deficiency were identified [ 8 ], indicating that P450scc deficiency would be a rare disease. In 1 patient in whom a postmortem examination had...
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Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102542
EISBN: 978-3-318-01461-7
... Abstract In a field that embraces multiple aspects of both clinical and basic research and thatmoves impressively fast, any answers to the questions why, what and how can we learn froma rare disease like Fanconi anemia (FA) must remain tentative and preliminary. However,there are very...
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Book Chapter
Series: Current Problems in Dermatology
Volume: 30
Published: 30 May 2002
10.1159/000060691
EISBN: 978-3-318-00771-8
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Series: Contributions to Nephrology
Volume: 136
Published: 04 October 2001
10.1159/isbn.978-3-318-00751-0
EISBN: 978-3-318-00751-0
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