Results 171 to 180 of about 5,744 (198)
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Pediatrics, 1955
The case of an infant with familial dysautonomia, complicated by an aspiration (lipoid) pneumonia, is presented. The additional manifestation of tongue-biting was attributed to underlying psychiatric disorder.
J R, HARRIS, H, GALL, S, WASSER
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The case of an infant with familial dysautonomia, complicated by an aspiration (lipoid) pneumonia, is presented. The additional manifestation of tongue-biting was attributed to underlying psychiatric disorder.
J R, HARRIS, H, GALL, S, WASSER
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Current Opinion in Genetics & Development, 2002
Familial dysautonomia is a developmental disorder of the sensory and autonomic nervous system. Recent studies have shown that two mutations in the gene IKBKAP are responsible for the disease. IKAP, the IKBKAP-encoded protein, is a member of the recently identified human Elongator complex.
Susan A, Slaugenhaupt, James F, Gusella
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Familial dysautonomia is a developmental disorder of the sensory and autonomic nervous system. Recent studies have shown that two mutations in the gene IKBKAP are responsible for the disease. IKAP, the IKBKAP-encoded protein, is a member of the recently identified human Elongator complex.
Susan A, Slaugenhaupt, James F, Gusella
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Current Paediatrics, 1997
Abstract Familial dysautonomia (FD, Riley-Day syndrome, hereditary sensory and autonomic neuropathy type III) can be considered a genetic model for understanding how perturbations in the autonomic nervous system and the sensory system can compromise cognition and alter behavior.
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Abstract Familial dysautonomia (FD, Riley-Day syndrome, hereditary sensory and autonomic neuropathy type III) can be considered a genetic model for understanding how perturbations in the autonomic nervous system and the sensory system can compromise cognition and alter behavior.
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Pregnancy in familial dysautonomia
American Journal of Obstetrics and Gynecology, 1978This report describes the first two known instances of viable pregnancies in two patients with familial dysautonomia (Riley-Day syndrome). The offspring were apparently normal. Several conditions, specifically related to autonomic and sensory dysfunction in pregnancy, are discussed.
R F, Porges, F B, Axelrod, M, Richards
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Personality Development and Familial Dysautonomia
Pediatrics, 1980The study sought to establish baselines for personality and frequency of psychopathology in familial dysautonomia (FD). Fifty FD patients, aged 6 to 28 years, served as subjects. FD subjects in all age ranges manifest neurotic patterns, but show no greater incidence of more severe pathology than is found in the general population.
D, Clayson, W, Welton, F B, Axelrod
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FURTHER OBSERVATIONS ON FAMILIAL DYSAUTONOMIA
Pediatrics, 1954Studies of familial dysautonomia by a team made up of a pediatrician, a neurologist, speech therapists, psychiatrists, psychologists and a psychiatric social worker have been presented in summary form. 1. Facts supporting the theory that this is a condition of genetic origin are enumerated.
C M, RILEY, A M, FREEDMAN, W S, LANGFORD
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Catecholamine Release in Familial Dysautonomia
New England Journal of Medicine, 1967PROMINENT among the symptoms of familial dysautonomia are the manifestations of autonomic dysfunction.1 A disturbance in catecholamine metabolism has been documented by the demonstration of high homovanillic acid and low vanillyl-mandelic acid urinary excretion rates.2 This evidence of pressor catecholamine insufficiency correlates well with the ...
A A, Smith, J, Dancis
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Respiratory control in familial dysautonomia
The Journal of Pediatrics, 1965The response to increased carbon dioxide (4 per cent) and reduced oxygen (12 per cent) inhalations in subjects with dysautonomia has been compared to that in normal individuals. In both instances, the patients with dysautonomia revealed a reduced ability to cope with these stresses, with potentially serious consequences.
J, FILLER +3 more
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