Results 261 to 270 of about 3,349,140 (303)
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Hypophosphatasia: A rare disorder
Journal of the American Association of Nurse Practitioners, 2018ABSTRACT Hypophosphatasia is a rare, progressive metabolic disorder inherited in either an autosomal dominant or an autosomal recessive fashion. Affected individuals may have unusual bone development. Infants may be diagnosed with infantile rickets.
Rodney W, Hicks +2 more
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Diagnosing rare bleeding disorders
Blood Coagulation & Fibrinolysis, 2021Rare bleeding disorders (RBDs) comprise the inherited deficiencies of coagulation factors such as fibrinogen, factor (F)II, FV, FV fl FVIII, FVII, FX, FXI, and FXIII, and are usually transmitted as autosomal recessive disorders.
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Migraine and rare neurological disorders
Neurological Sciences, 2020Although migraine is generally considered an idiopathic and isolated neurological condition, it may also represent the presenting symptom of several uncommon heritable and acquired neurological diseases contributing to the recognition of such conditions.
Scelzo E. +6 more
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2010
Biobanks are collections of biomaterials with associated data. Biobanking is an essential tool to provide access to high quality human biomaterial for fundamental and translational research. Research for rare disorders benefits from the provision of human biomaterials through biobanks, and each human sample from a person with a rare disorder has a high
Hanns, Lochmüller, Peter, Schneiderat
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Biobanks are collections of biomaterials with associated data. Biobanking is an essential tool to provide access to high quality human biomaterial for fundamental and translational research. Research for rare disorders benefits from the provision of human biomaterials through biobanks, and each human sample from a person with a rare disorder has a high
Hanns, Lochmüller, Peter, Schneiderat
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Building treasures for rare disorders
European Journal of Medical Genetics, 2015The internet pre-eminently marks an era with unprecedented chances for patient care. Especially individuals with rare disorders and their families can benefit. Their handicap of low numbers vanishes and can become a strength, as small, motivated and well-organized international support groups allow easily fruitful collaborations with physicians and ...
Melanie Baas +5 more
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Autism: not an extremely rare disorder
Acta Psychiatrica Scandinavica, 1999Objective: To study autism over time in order to ascertain whether there has been an increase in its prevalence in recent years. Method: All English language papers on the prevalence of autism were reviewed. Ten of the studies retrieved were not used in the final analysis because they did not meet full criteria for inclusion in the review.
C, Gillberg, L, Wing
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Nasopharyngeal Melanoma: A Rare Disorder
Acta Otorrinolaringologica (English Edition), 2014aciente de 66 anos sin antecedentes de interes, que ingreso or perdida de conocimiento, movimientos tonico-clonicos y omnolencia. La exploracion inicial resulto sin alteraciones ardiorrespiratorias ni focalidad neurologica. Las pruebas omplementarias no mostraron afecciones hematologicas ni lectrocardiograficas, y la radiografia de torax fue normal.
Juan Manuel, Maza-Solano +3 more
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A rare and unusual hyperkeratotic disorder
Journal of Clinical Pathology, 2015Clinical question A 78-year-old female presented with a pruritic rash on her legs for many years. A biopsy was taken from the right leg. Review the high-quality, interactive digital Aperio slide at http://virtualacp.com/JCP_Case/index.php and ...
Amna, Ahmad +2 more
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AJN, American Journal of Nursing, 2021
Several new drugs have been approved to treat rare genetic disorders: setmelanotide for certain conditions causing obesity; lumasiran for primary hyperoxaluria type 1, a kidney disorder; and lonafarnib for two diseases that cause premature aging.
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Several new drugs have been approved to treat rare genetic disorders: setmelanotide for certain conditions causing obesity; lumasiran for primary hyperoxaluria type 1, a kidney disorder; and lonafarnib for two diseases that cause premature aging.
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OVERVIEW OF RARE MOVEMENT DISORDERS
Continuum, 2010Movement disorders that are infrequently seen in clinical practice can be difficult to recognize and accurately diagnose. Familiarity with these disorders can help the clinician distinguish them from more common movement disorders, such as Parkinson disease, which is associated with a significantly different prognosis and treatment approach.
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