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Glucocorticoid deficiency with achalasia
Known as:
ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER
, ACHALASIA-ALACRIMA SYNDROME
, Infantile achalasia with alacrima
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A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused in some cases by mutations in the AAAS gene on chromosome 12…
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National Institutes of Health
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Related topics
Related topics
17 relations
AAAS gene
AAAS, LEU430PHE
APP gene
Achalasia
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Broader (2)
Adrenal gland hypofunction
Esophageal Achalasia
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
Per-oral Endoscopic Myotomy (POEM) After the Learning Curve: Durable Long-term Results With a Low Complication Rate
E. Hungness
,
J. Sternbach
,
E. Teitelbaum
,
P. Kahrilas
,
J. Pandolfino
,
N. Soper
Annals of surgery
2016
Corpus ID: 36313543
Objective: We aimed to report long-term outcomes for patients undergoing per-oral endoscopic myotomy (POEM) after our initial 15…
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Highly Cited
2014
Highly Cited
2014
Results of the United States multicenter prospective study evaluating the Zenith fenestrated endovascular graft for treatment of juxtarenal abdominal aortic aneurysms.
G. Oderich
,
R. Greenberg
,
+5 authors
Priya Bharadwaj
Journal of vascular surgery
2014
Corpus ID: 45477404
Review
2012
Review
2012
Pathogenesis of achalasia cardia.
U. Ghoshal
,
S. Daschakraborty
,
Renu Singh
World journal of gastroenterology
2012
Corpus ID: 13548011
Achalasia cardia is one of the common causes of motor dysphagia. Though the disease was first described more than 300 years ago…
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Highly Cited
2003
Highly Cited
2003
The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome
J. Cronshaw
,
M. Matunis
Proceedings of the National Academy of Sciences…
2003
Corpus ID: 9006190
Triple A syndrome is a human autosomal recessive disorder characterized by an unusual array of tissue-specific defects. Triple A…
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Highly Cited
2001
Highly Cited
2001
Manometric heterogeneity in patients with idiopathic achalasia.
I. Hirano
,
R. Tatum
,
G. Shi
,
Q. Sang
,
R. Joehl
,
P. Kahrilas
Gastroenterology
2001
Corpus ID: 31730807
BACKGROUND & AIMS In certain cases of achalasia, particularly those in early stages with minimal endoscopic or radiographic…
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Highly Cited
2001
Highly Cited
2001
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.
K. Handschug
,
S. Sperling
,
S. Yoon
,
S. Hennig
,
A. Clark
,
A. Huebner
Human molecular genetics
2001
Corpus ID: 7819691
The triple A syndrome (MIM 231550) is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia and…
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Highly Cited
2000
Highly Cited
2000
Mutant WD-repeat protein in triple-A syndrome
A. Tullio-Pelet
,
R. Salomon
,
+14 authors
S. Lyonnet
Nature Genetics
2000
Corpus ID: 22952012
Triple-A syndrome (MIM 231550; also known as Allgrove syndrome) is an autosomal recessive disorder characterized by…
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Highly Cited
1999
Highly Cited
1999
Association of HLA-DR and -DQ alleles with idiopathic achalasia.
G. Verne
,
A. Hahn
,
B. Pineau
,
B. Hoffman
,
B. Wojciechowski
,
W. Wu
Gastroenterology
1999
Corpus ID: 40223908
Review
1996
Review
1996
Predictors of death in nonruptured and ruptured abdominal aortic aneurysms.
J. C. Chen
,
H. Hildebrand
,
+4 authors
Y. Hsiang
Journal of vascular surgery
1996
Corpus ID: 19103081
Highly Cited
1991
Highly Cited
1991
Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima
P. Moore
,
R. Couch
,
Y. Perry
,
E. P. Shuckett
,
J. Winter
Clinical endocrinology
1991
Corpus ID: 31728131
Allgrove syndrome (Isolated glucocorticoid deficiency, achalasia and alacrima) was found in eight members of an inbred French…
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