ALLMedicine™ Alacrima Center

Dec 18th, 2022 - NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. The aims of this study were to (1) characterize the variants and clinical features of the largest cohort of NGLY1 Deficiency patients reported ...

Dec 13th, 2022 - Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability.|2022|Sager G,Türkyilmaz A,Hanedar YD,Günbey HP,Akin Y,|

Jul 29th, 2022 - Triple A syndrome is a very uncommon disease marked by a triad of adrenocorticotrophic hormone (ACTH)-resistant features: adrenal insufficiency, alacrimia, and achalasia. It presents in several clinical forms with undetermined incidence and shows ...

Jul 3rd, 2022 - NGLY1 deficiency is a rare congenital disorder of deglycosylation with a unique constellation of symptoms that include hypo- or alacrima, movement disorder, epilepsy, and severe intellectual disability (OMIM #615273). Here we report a patient with...

Jun 8th, 2022 - NGLY1 deficiency is a rare genetic disorder that is characterized by: global developmental delay and/or intellectual disability, hypo- or alacrima, transient elevation of transaminases, and a hyperkinetic movement disorder. Significant phenotypic ...

Oct 22nd, 2021 - SPL UNCLASSIFIED SECTION PRODUCT INFORMATION For ophthalmic use in dogs only. Sterile SPL UNCLASSIFIED SECTION US Federal law restricts this drug to use by or on the order of a licensed veterinarian. DESCRIPTION SECTION Each gram of OPTIMMUNE®...

Jun 8th, 2022 - NGLY1 deficiency is a rare genetic disorder that is characterized by: global developmental delay and/or intellectual disability, hypo- or alacrima, transient elevation of transaminases, and a hyperkinetic movement disorder. Significant phenotypic ...

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...