Early diagnosis of familial dysautonomia. Case report with special reference to primary patho-physiological findings.

Author:

Goodall J.,Shinebourne E.,Lake B. D.

Publisher

BMJ

Subject

Pediatrics, Perinatology, and Child Health

Reference22 articles.

1. Paroxysmal hypertension simulating pheochromocytoma;Aronson, N.; Stern, G.S.; Cohlan, S.Q.;Pediatrics,1951

2. The release of noradrenaline from sympathetic fibres in relation to calcium concentration;Burn, J.H.; Gibbons, W.R.,1965

3. A neurologic evaluation of the cutaneous histamine reaction;Cooper, I.S.;J. clin. Invest,1950

4. The mechanism of catecholamine release from the adrenal medulla and the role of calcium in stimulus-secretion coupling;Douglas, W.W.; Rubin, R.P.;J. Physiol. (Lond.),1963

5. Calcium dependence of spontaneous acetylcholine release at mammalian motor nerve terminals;Feldman, D.S.;ibid; Manifestations of familial autonomic dysautonomia,1965

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1. Neuromuscular Disorders;Self-Assessment Questions for Clinical Molecular Genetics;2019

2. Neonatal recognition of familial dysautonomia;The Journal of Pediatrics;1987-06

3. Overview of Norepinephrine in Selected Pediatric Disorders;The Catecholamines in Psychiatric and Neurologic Disorders;1985

4. Congenital Sensory Neuropathies;American Journal of Diseases of Children;1984-10-01

5. Congenital autonomic dysfunction with universal pain loss;The Journal of Pediatrics;1983-07

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