Results 171 to 180 of about 187,613 (226)
The Vagal Link: Autonomic Nervous System Dysfunction in Cardiac Amyloidosis. [PDF]
Barocelli F +14 more
europepmc +1 more source
Endometrial estrogen and progesterone receptor activity in unusual chronology of pubertal development: a case report. [PDF]
Siqueira-Souza M +7 more
europepmc +1 more source
Three Empty Bottles and a Wide QRS: Rapid Alkalinization Rescue in Propafenone Overdose. [PDF]
Chaudhry A +4 more
europepmc +1 more source
Comparison of Dysautonomia Across Species: Current Knowledge and Future Research Opportunities. [PDF]
Atkins CN, Hahn CN, McGorum BC.
europepmc +1 more source
A Rare Co-Occurrence of Gastric Heterotopia and Autonomic Nervous System Dysfunction: An Attempt to Explain If There Is a Need to Explore Possible Syndromic Link. [PDF]
Alhalabi L +5 more
europepmc +1 more source
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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
openaire +2 more sources
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
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
openaire +3 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
openaire +3 more sources
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
openaire +2 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 A, Slaugenhaupt, James F, Gusella
openaire +2 more sources

