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About 103 results

ALLMedicine™ Alacrima Center

Research & Reviews  40 results

GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8087212
The Journal of Clinical Investigation; Franzka P, Henze H et. al.

Mar 24th, 2021 - GDP-mannose-pyrophosphorylase-B (GMPPB) facilitates the generation of GDP-mannose, a sugar donor required for glycosylation. GMPPB defects cause muscle disease due to hypoglycosylation of α-dystroglycan (α-DG). Alpha-DG is part of a protein comple...

Allgrove (AAA) Syndrome
https://emedicine.medscape.com/article/919360-overview

Mar 15th, 2021 - Background Allgrove syndrome or Triple A (AAA) syndrome (online mendelian inheritance in man [OMIM] number 231550) is a rare autosomal recessive disease characterized by alacrima, achalasia of the esophageal cardia, and adrenal failure first descr...

New Onset Alacrima as a Presenting Feature of a Skull Base Chondrosarcoma.
https://doi.org/10.1097/IOP.0000000000001683
Ophthalmic Plastic and Reconstructive Surgery; Lee H, Oliphant H et. al.

May 20th, 2020 - Acquired unilateral alacrima as a presenting sign of an intracranial tumor is exceptionally rare, and only described once previously in a case of nasopharyngeal carcinoma. The authors present a 32-year-old female patient who presents with a year-l...

Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in t...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322575
Human Molecular Genetics; Asahina M, Fujinawa R et. al.

Apr 8th, 2020 - N-glycanase 1 (NGLY1) deficiency, an autosomal recessive disease caused by mutations in the NGLY1 gene, is characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, movement disorders and other neurological p...

Allgrove Syndrome: A Report of New Pathological Variants in the AAAS Gene.
https://doi.org/10.1097/ICO.0000000000002287
Cornea Jabbour S, Hamel P et. al.

Feb 20th, 2020 - To report 2 novel variants in the AAAS gene consistent with the diagnosis of Allgrove syndrome. A 12-year-old girl was referred to our clinic for progressive bilateral decrease in visual acuity. She was known for achalasia that had been surgically...

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Clinicaltrials.gov  1 results

Genetic Evaluation of AAAS Gene in Early-Onset Achalasia and Alacrima Patients
https://clinicaltrials.gov/ct2/show/NCT00856921

Mar 6th, 2009 - The AAAS gene has been known to cause achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. A considerable proportion of achalasia patients have been known to show alacrima (decreased secretion of tears). However, the...

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