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Seminars in Neurology, 2021
AbstractHereditary myelopathies are an important and likely underappreciated component of neurogenetic disease. While previously distinctions have been made by age of onset, the growing power and availability of high-quality neuroimaging and next-generation sequencing are increasingly expanding classical phenotypes and diminishing the utility of age ...
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AbstractHereditary myelopathies are an important and likely underappreciated component of neurogenetic disease. While previously distinctions have been made by age of onset, the growing power and availability of high-quality neuroimaging and next-generation sequencing are increasingly expanding classical phenotypes and diminishing the utility of age ...
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Continuum, 2011
Hereditary myelopathies comprise a diverse group of disorders whose signs and symptoms include progressive spasticity, limb ataxia without additional cerebellar signs, impaired vibration and positional sensation, and a variable degree of neurogenic weakness, all suggesting spinal cord impairment.
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Hereditary myelopathies comprise a diverse group of disorders whose signs and symptoms include progressive spasticity, limb ataxia without additional cerebellar signs, impaired vibration and positional sensation, and a variable degree of neurogenic weakness, all suggesting spinal cord impairment.
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Seminars in Hematology, 2002
Hereditary hemochromatosis (hh, type 1 hemochromatosis) is an autosomal recessive trait characterized by hyperabsorption of dietary iron. The disease trait occurs in approximately five per thousand Caucasians of northern European descent. The causative gene, designated HFE, was isolated and characterized in 1996; most individuals with hh are homozygous
Richard S, Ajioka, James P, Kushner
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Hereditary hemochromatosis (hh, type 1 hemochromatosis) is an autosomal recessive trait characterized by hyperabsorption of dietary iron. The disease trait occurs in approximately five per thousand Caucasians of northern European descent. The causative gene, designated HFE, was isolated and characterized in 1996; most individuals with hh are homozygous
Richard S, Ajioka, James P, Kushner
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2006
Abstract A 25-year-old Japanese man was admitted to the hospital because of fever, sore throat, and general malaise. He had been febrile for several days and had noticed that the color of his urine was unusually dark. On admission, his temperature was 37.8°C.
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Abstract A 25-year-old Japanese man was admitted to the hospital because of fever, sore throat, and general malaise. He had been febrile for several days and had noticed that the color of his urine was unusually dark. On admission, his temperature was 37.8°C.
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2003
Abstract We shall first present the results of Harada [1-5] and Brumer [I] concerning hereditary orders in separable algebras. The approach used is that of Jacobinski [ 4]. As we shall see, we can give an explicit description of the structure of hereditary orders.
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Abstract We shall first present the results of Harada [1-5] and Brumer [I] concerning hereditary orders in separable algebras. The approach used is that of Jacobinski [ 4]. As we shall see, we can give an explicit description of the structure of hereditary orders.
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2010
Photodermatoses are defined as the abnormal reactions of the skin to photons, usually those of wavelengths found in sunlight. These reactions can be caused by a wide variety of reasons, including defects in repair oflight-induced DNA lesions, the interaction of certain chemicals or medications with sunlight to produce toxic mediators and photo-induced ...
Dennis H, Oh, Graciela, Spivak
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Photodermatoses are defined as the abnormal reactions of the skin to photons, usually those of wavelengths found in sunlight. These reactions can be caused by a wide variety of reasons, including defects in repair oflight-induced DNA lesions, the interaction of certain chemicals or medications with sunlight to produce toxic mediators and photo-induced ...
Dennis H, Oh, Graciela, Spivak
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New England Journal of Medicine, 2022
Toon, Dominicus, Stephanie, De Rechter
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Toon, Dominicus, Stephanie, De Rechter
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Current Opinion in Pediatrics, 2005
Major advances have been made in understanding the clinical signs and symptoms, the pathophysiology and the treatment of hereditary angioedema. This disease that often begins in childhood is caused by partial absence of the plasma protein C1-inhibitor.
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Major advances have been made in understanding the clinical signs and symptoms, the pathophysiology and the treatment of hereditary angioedema. This disease that often begins in childhood is caused by partial absence of the plasma protein C1-inhibitor.
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Nursing Clinics of North America, 2000
Hereditary hemochromatosis (HH) is an autosomal recessive iron overload disorder that affects more than one million Americans. This underdiagnosed disorder is associated with high morbidity and mortality, which can be prevented with early identification and treatment.
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Hereditary hemochromatosis (HH) is an autosomal recessive iron overload disorder that affects more than one million Americans. This underdiagnosed disorder is associated with high morbidity and mortality, which can be prevented with early identification and treatment.
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