About 95 results

ALLMedicine™ Alacrima Center

Research & Reviews  37 results

GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
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...

Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han...
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...

New Onset Alacrima as a Presenting Feature of a Skull Base Chondrosarcoma.
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...
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.
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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