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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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The Lancet, 2008
Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. It is reported worldwide and is the most common inherited anaemia in individuals of northern European ancestry. Clinical severity is variable with most patients having a well-compensated haemolytic anaemia.
PERROTTA, Silverio +2 more
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Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. It is reported worldwide and is the most common inherited anaemia in individuals of northern European ancestry. Clinical severity is variable with most patients having a well-compensated haemolytic anaemia.
PERROTTA, Silverio +2 more
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Best Practice & Research Clinical Rheumatology, 2003
Hereditary amyloidosis is, in general, a systemic condition related to multiple organ system involvement by beta-structured protein deposits. As such, it often mimics the more common forms of systemic amyloidosis: immunoglobulin light chain (AL, primary) and reactive (AA, secondary).
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Hereditary amyloidosis is, in general, a systemic condition related to multiple organ system involvement by beta-structured protein deposits. As such, it often mimics the more common forms of systemic amyloidosis: immunoglobulin light chain (AL, primary) and reactive (AA, secondary).
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International Journal of Surgical Pathology, 2014
Introduction. Pheochromocytomas (PHEO) and paragangliomas (PGL) are rare neuroendocrine tumors with an estimated occurrence of 2 to 5 patients per million per year and an incidence of about 1 per 100 000 in the general population. These tumors may arise sporadically or be associated to various syndromes, namely multiple endocrine neoplasia type 2 ...
Pedro, Santos +2 more
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Introduction. Pheochromocytomas (PHEO) and paragangliomas (PGL) are rare neuroendocrine tumors with an estimated occurrence of 2 to 5 patients per million per year and an incidence of about 1 per 100 000 in the general population. These tumors may arise sporadically or be associated to various syndromes, namely multiple endocrine neoplasia type 2 ...
Pedro, Santos +2 more
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2023
The hereditary neuropathies, collectively referred as Charcot-Marie-Tooth disease (CMT) and related disorders, are heterogeneous genetic peripheral nerve disorders that collectively comprise the commonest inherited neurological disease with an estimated prevalence of 1:2500 individuals. The field of hereditary neuropathies has made significant progress
Chiara, Pisciotta, Michael E, Shy
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The hereditary neuropathies, collectively referred as Charcot-Marie-Tooth disease (CMT) and related disorders, are heterogeneous genetic peripheral nerve disorders that collectively comprise the commonest inherited neurological disease with an estimated prevalence of 1:2500 individuals. The field of hereditary neuropathies has made significant progress
Chiara, Pisciotta, Michael E, Shy
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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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Metabolism, 2018
Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in an autosomal recessive manner.
Demirbas, Didem +3 more
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Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in an autosomal recessive manner.
Demirbas, Didem +3 more
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Acta Oncologica, 1999
Cancer cases are often clustered in certain families and pedigree analysis indicates that at least 5% of cancer patients have a genetic predisposition to the disease. During the past decade the basic mechanisms for hereditary cancer have been outlined and a large number of the genes involved have been identified.
A, Lindblom, M, Nordenskjöld
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Cancer cases are often clustered in certain families and pedigree analysis indicates that at least 5% of cancer patients have a genetic predisposition to the disease. During the past decade the basic mechanisms for hereditary cancer have been outlined and a large number of the genes involved have been identified.
A, Lindblom, M, Nordenskjöld
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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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