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About 150 results

ALLMedicine™ Alacrima Center

Research & Reviews  57 results

NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from t...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9759919
Orphanet Journal of Rare Diseases; Stanclift CR, Dwight SS et. al.

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 ...

Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with a...
https://doi.org/10.1097/MCD.0000000000000433
Clinical Dysmorphology; Sager G, Türkyilmaz A et. al.

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,|

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 ...

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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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