ALLMedicine™ Alacrima Center
Research & Reviews 43 results
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...
Endocrine, Metabolic & Immune Disorders Drug Targets; Zhang ZW, Guo X et. al.
Sep 12th, 2020 - Multiple endocrine neoplasia type 2B (MEN 2B) is mainly caused by M918T RET germline mutation, and characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO) and non-endocrine features. However, the diagnosis and treatment are usu...
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...
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...
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...