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About 145 results

ALLMedicine™ Alacrima Center

Research & Reviews  55 results

Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9336103
Journal of Medical Case Reports; Ali S, Murad MS et. al.

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 ...

Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient.
https://doi.org/10.1016/j.ejmg.2022.104558
European Journal of Medical Genetics; Nolan DK, Pastore MT et. al.

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...

NGLY1 Deficiency: A Prospective Natural History Study
https://clinicaltrials.gov/ct2/show/NCT03834987

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 ...

A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with tw...
https://doi.org/10.1002/ajmg.a.62859
American Journal of Medical Genetics. Part A; Geiculescu I, Dranove J et. al.

Jun 7th, 2022 - Achalasia is rare in the pediatric population and should prompt clinicians to consider genetic disorders associated with this condition. While AAA syndrome (also known as Allgrove or Triple A syndrome) is commonly considered, GMPPA-congenital diso...

An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin p...
https://doi.org/10.1371/journal.pgen.1010228
PLoS Genetics; Hope KA, Berman AR et. al.

Jun 3rd, 2022 - NGLY1 deficiency, a rare disease with no effective treatment, is caused by autosomal recessive, loss-of-function mutations in the N-glycanase 1 (NGLY1) gene and is characterized by global developmental delay, hypotonia, alacrima, and seizures. We ...

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Drugs  1 results

Optimmune ophthalmic - cyclosporine ointment-Merck Sharp & Dohme
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=8ee9c677-d86c-4f2f-9eec-6998f4394ae1

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®...

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Clinicaltrials.gov  2 results

NGLY1 Deficiency: A Prospective Natural History Study
https://clinicaltrials.gov/ct2/show/NCT03834987

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 ...

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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