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Published in 2021 at "Annals of Medicine and Surgery"
DOI: 10.1016/j.amsu.2021.103009
Abstract: Triple A syndrome 3A (Allgrove syndrome) is a rare autosomal recessive multiorgans dysfunction characterized by alacrima, achalasia which is the absence of esophageal muscle peristalsis and lower sphincter failure to relax and adrenal insufficiency. About…
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Keywords:
allgrove syndrome;
years old;
case;
old male ... See more keywords
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Published in 2020 at "Physiotherapy Theory and Practice"
DOI: 10.1080/09593985.2018.1548049
Abstract: Background Allgrove syndrome is a multisystem disorder first described in 1978 and is classically associated with esophageal achalasia, alacrima, and adrenal insufficiency. Allgrove syndrome is caused by homozygous and/or compound heterozygous mutations on Chromosome 12q13,…
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Keywords:
allgrove syndrome;
program;
case;
decision making ... See more keywords
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Published in 2021 at "Practical Neurology"
DOI: 10.1136/practneurol-2021-003192
Abstract: Allgrove syndrome is an autosomal recessive disease mostly caused by mutations in the AAAS gene. It has variable clinical features but its cardinal features comprise the triad of achalasia, alacrimia and adrenal insufficiency. It typically…
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Keywords:
syndrome amyotrophy;
syndrome;
allgrove syndrome;
neurology ... See more keywords
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Published in 2020 at "European journal of ophthalmology"
DOI: 10.1177/1120672120945109
Abstract: INTRODUCTION The purpose is to report a case on the use of cyclosporine A 0.05% for primary alacrimia in Allgrove syndrome or triple A syndrome (alacrimia, achalasia, and adrenal insufficiency). CASE DESCRIPTION A 37-year-old man…
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Keywords:
alacrimia;
allgrove syndrome;
treatment;
primary alacrimia ... See more keywords
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Published in 2018 at "BMC Pediatrics"
DOI: 10.1186/s12887-018-1161-4
Abstract: BackgroundAllgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation…
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Keywords:
allgrove syndrome;
1331 mutation;
report;
aaas gene ... See more keywords
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Published in 2018 at "Iranian Journal of Pediatrics"
DOI: 10.5812/ijp.6921
Abstract: : Allgrove syndrome (triple A syndrome) is a rare autosomal recessive condition with adrenal insufficiency, achalasia and alacrima. This syndrome is caused by mutations in AAAS gene. In this article we introduce six patients of…
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Keywords:
allgrove syndrome;
iranian patients;
aaas gene;
gene ... See more keywords