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Inherited disorders of platelets: an update
Current Opinion in Hematology, 2006To overview inherited syndromes that affect platelets and to discuss current data on the molecular origin and management of these rare diseases.An increasing number of genes responsible for inherited thrombocytopenias have been identified and these now extend to glycosylation defects.
Alan T, Nurden, Paquita, Nurden
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Inherited disorders: the comparative picture
Australian Veterinary Journal, 1996SUMMARYWhen confronted with a novel familial disorder, veterinarians should consult McKusick's catalogue of inherited disorders in humans, called Mendelian Inheritance in Man (MIM), or its online version (OMIM), to see whether a similar disorder has been reported in humans.
F W, Nicholas, P A, Harper
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Genetics of inherited platelet disorders
Hämostaseologie, 2014SummaryThe current review describes inherited platelet disorders, illustrates their clinical phenotype and molecular genetic defects. Platelets are the key molecules mediating haemostasis via adhesion, activation and clot formation at the site of injury.
Gothwal, Monika +2 more
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Treatment of inherited platelet disorders
Haemophilia, 2012Summary. For patients affected by severe inherited platelet dysfunctions, e.g. Glanzmann thrombasthenia (GT) or Bernard‐Soulier syndrome (BSS), platelet transfusion is frequently needed for controlling spontaneous bleeding, and is always needed when trauma occurs or surgery is performed. For the mild‐to‐moderate bleeding entities, e.g.
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Understanding Inherited Disorders
The American Journal of Nursing, 1975LUCILLE S. WHALEY, KATHRYN E. BARNARD
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[Inherited disorders of bilirubin metabolism].
Minerva pediatrica, 2005Jaundice in an infant or older child may reflect accumulation of either unconjugated or conjugated bilirubin and could be related to inherited bilirubin disorders. Three grades of inherited unconjugated hyperbilirubinemia are recognised in humans. This spectrum of disorders is distinguished primarily on the basis of the plasma bilirubin level, the ...
ROSSI, Francesca +7 more
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The contributions of rare inherited and polygenic risk to ASD in multiplex families
Proceedings of the National Academy of Sciences of the United States of America, 2023Matilde Cirnigliaro +2 more
exaly
Diagnostic approach to the patient with a suspected inherited platelet disorder: Who and how to test
Journal of Thrombosis and Haemostasis, 2021Juliana Perez Botero
exaly