Articles with "allgrove syndrome" as a keyword



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Allgrove syndrome: Case report of 18 years old male:the first case report from Syria

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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… read more here.

Keywords: allgrove syndrome; years old; case; old male ... See more keywords
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Clinical decision making and application of an active rehabilitation program for a person with the neuromuscular symptoms of Allgrove syndrome: a case report.

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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,… read more here.

Keywords: allgrove syndrome; program; case; decision making ... See more keywords
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Allgrove syndrome with amyotrophy

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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… read more here.

Keywords: syndrome amyotrophy; syndrome; allgrove syndrome; neurology ... See more keywords
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The use of topical cyclosporine A 0.05% as treatment for primary alacrimia in Allgrove syndrome.

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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… read more here.

Keywords: alacrimia; allgrove syndrome; treatment; primary alacrimia ... See more keywords
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Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report

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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… read more here.

Keywords: allgrove syndrome; 1331 mutation; report; aaas gene ... See more keywords
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Allgrove Syndrome in Iranian Patients and Report on a Novel Mutation in AAAS Gene

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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… read more here.

Keywords: allgrove syndrome; iranian patients; aaas gene; gene ... See more keywords