Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1001/archopht.1968.03850040047013 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Development of new NGLY1 assay systems - toward developing an early screening method for NGLY1 deficiency.
Glycobiology
September 2024
Glycometabolic Biochemistry Laboratory, RIKEN Cluster for Pioneering Research (CPR), Riken, 2-1 Hirosawa, Wako Saitama 351-0198, Japan.
Cytosolic peptide: N-glycanase (PNGase/NGLY1 in mammals) is an amidase (EC:3.5.1.
View Article and Find Full Text PDFIsolated Congenital Lacrimal Gland Agenesis.
Cureus
April 2024
Department of Radiology, Boston Children's Hospital, Boston, USA.
Congenital alacrima is an uncommon condition marked by a lack of tear production that is present from birth. This condition often occurs in conjunction with various syndromes but can also result from isolated lacrimal gland agenesis. Congenital alacrima should be evaluated in the differential diagnosis for pediatric patients presenting with symptoms of dry eyes, especially in cases without xerostomia or other systemic rheumatologic findings.
View Article and Find Full Text PDFA 16-year-old boy presented with triple-A syndrome associated with neuromuscular disorders: a case report.
Ann Med Surg (Lond)
March 2024
Surgery Department, Aleppo University Hospital, Aleppo, Syria.
Introduction And Importance: Allgrove syndrome (AS) (AAA syndrome) is a rare autosomal recessive disease caused by mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes for the ALADIN protein (alacrima, achalasia, adrenal insufficiency, neurologic disorder). AS can manifest with a plethora of symptoms.
View Article and Find Full Text PDFNGLY1 deficiency: a prospective natural history study.
Hum Mol Genet
September 2023
Grace Science Foundation, Menlo Park, CA 94026, USA.
Article Synopsis
- * A natural history study followed 29 patients for up to 32 months to assess the disease's clinical features; most showed significant developmental challenges and consistent issues with motor function and communication.
- * Findings from this study suggest important markers for future clinical trials, focusing on biomarker levels, cognitive assessments, motor skills, and quality of life as potential endpoints for evaluating treatments.
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.
Orphanet J Rare Dis
December 2022
Rady Children's Institute for Genomic Medicine, 3020 Children's Way, San Diego, CA, USA.
Purpose: 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 to date, and (2) estimate the incidence of this disorder.
Methods: The Grace Science Foundation collected genotypic data from 74 NGLY1 Deficiency patients, of which 37 also provided phenotypic data.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!