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Canadian family physician Medecin de famille canadien, 2013 Some of the next articles are maybe not open access.
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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
exaly +4 more sources
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
exaly +4 more sources
Current Opinion in Genetics and 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 Slaugenhaupt, James Gusella
exaly +3 more sources
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 Slaugenhaupt, James Gusella
exaly +3 more sources
Clinical Autonomic Research, 2023
Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death. The FD founder mutation in the ELP1 gene arose within the Ashkenazi Jews in the sixteenth century and is present in 1:30 Jews of European ancestry.
Alejandra González-Duarte +3 more
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Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death. The FD founder mutation in the ELP1 gene arose within the Ashkenazi Jews in the sixteenth century and is present in 1:30 Jews of European ancestry.
Alejandra González-Duarte +3 more
openaire +2 more sources
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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The pupil in familial dysautonomia
Neurology, 1981We performed infrared pupillography on 10 patients with familial dysautonomia. Pupillary constriction to light and accommodation was normal. There was no evidence for light-near dissociation, and tonic responses were not observed. Dilatation in darkness was normal.
A D, Korczyn +3 more
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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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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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Caring for the Child with FAMILIAL DYSAUTONOMIA
AJN, American Journal of Nursing, 1975flicts both boys and girls and appears to be found exclusively in Jewish children of Eastern European ancestry. It follows an autosomal rpcessive pattern of inheritance(l). The symptoms of familial dysautonomia, also known as the Riley-Day syndrome, reflect a diffuse, selective, sensory-motor defect combined with autonomic nervous system dysfunction ...
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