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Inherited bleeding disorders in pregnancy
Best Practice & Research Clinical Obstetrics & Gynaecology, 2012Women with inherited bleeding disorders may face several haemostatic challenges during pregnancy and childbirth. Pregnancy in these women requires specialised and individualised care. Prenatal diagnosis is primarily considered in families affected by severe bleeding disorder such as haemophilia.
Claudia, Chi, Rezan A, Kadir
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Gene therapy for inherited disorders
Journal of Pediatric Nursing, 1995With an increase in understanding of the role of genes in disease pathogenesis, gene therapy has become a reality for some disorders and an increased possibility for many others. One type of gene therapy requires only gene addition for treatment. Different methods for gene addition are being tested, based on the cell typology necessary to make the ...
R H, Pickler, C L, Munro
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Inherited Disorders of Manganese Metabolism
2017While the neurotoxic effects of manganese were recognized in 1837, the first genetic disorder of manganese metabolism was described only in 2012 when homozygous mutations in SLC30A10 were reported to cause manganese-induced neurotoxicity. Two other genetic disorders of manganese metabolism have now been described - mutations in SLC39A14 cause manganese
Charles E, Zogzas +1 more
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Understanding Inherited Disorders
The American Journal of Nursing, 1975LUCILLE S. WHALEY, KATHRYN E. BARNARD
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The rare inherited coagulation disorders
Pediatric Blood & Cancer, 2012AbstractThe rare inherited coagulation disorders (RICD) are uncommon and thus not well‐defined in terms of severity or management. Inheritance is autosomal; in some of these disorders in the heterozygote state affected individuals may be mildly symptomatic. Severe deficiencies are more common in association with consanguinity.
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Electrophysiology and inherited retinal disorders
Documenta Ophthalmologica, 1985An understanding of electrophysiologic procedures and their application is crucial for evaluating patients with inherited retinal disorders. This review emphasizes the value of electrophysiologic procedures in the differential diagnosis of clinically similar disorders, the evaluation of atypical presentations of known retinal disorders, and the ...
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An international classification of inherited metabolic disorders (ICIMD)
Journal of Inherited Metabolic Disease, 2021Stefan Kolker +2 more
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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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Screening and diagnosis of inherited platelet disorders
Critical Reviews in Clinical Laboratory Sciences, 2022Subia Tasneem, Alex Bourguignon
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