Results 61 to 70 of about 21,161 (167)

Anterior segment optical coherence tomography and in vivo confocal microscopy in cases of mucopolysaccharidosis

American Journal of Ophthalmology Case Reports, 2020
Purpose: To report anterior segment evaluation in patients with mucopolysaccharidosis 1 using anterior segment optical coherence tomography and in vivo confocal microscopy.
Ayumi Matoba, Yoshinori Oie, Honami Tanibuchi, Andrew Winegarner, Kohji Nishida   +4 more
doaj   +1 more source

Genome Editing for Glycogen Storage Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Gene therapy has been developed for several glycogen storage diseases and has advanced into clinical trials. However, the limitations of these gene therapies with regard to stability following treatment early in life have led to the development of genome editing.
Troy von Beck, Raymond Wang, Dwight Koeberl   +2 more
wiley   +1 more source

Glycosaminoglycan degradation fragments in mucopolysaccharidosis I

, 2004
The catabolism of glycosaminoglycans begins with endohydrolysis of polysaccharides to oligosaccharides followed by the sequential action of an array of exoenzymes to reduce these oligosaccharides to monosaccharides and inorganic sulfate.
Fuller, M., Peter J. Meikle, Hopwood, J., Meikle, P., John J. Hopwood, Maria Fuller   +5 more
core   +1 more source

Mucopolysaccharidosis I: Management and treatment guidelines

, 2009
OBJECTIVE. Disease management for mucopolysaccharidosis type I has been inconsistent because of disease rarity (∼ 1 case per 100 000 live births), phenotypic heterogeneity, and limited therapeutic options.
Clarke, Lorne A., Wraith, James E., Muenzer, Joseph   +2 more
core   +1 more source

Noninflammatory disorders mimic juvenile idiopathic arthritis

International Journal of Pediatrics & Adolescent Medicine, 2018
Juvenile idiopathic arthritis (JIA) is the most common chronic childhood arthritis; unfortunately, no diagnostic tool is available. Genetic disorders with musculoskeletal involvement that mimic chronic polyarthritis should be considered in the ...
Sulaiman M. Al-Mayouf
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Amino Acid Metabolism in Health and Disease

MedComm, Volume 7, Issue 9, September 2026.
This graphical abstract delineates the multifaceted role of amino acid metabolism in health and disease. It illustrates how amino acids sustain physiological homeostasis across the liver, kidney, brain, heart, intestine, muscle, skeleton, and immune system.
Zhiwei Su, Jinyu Liu, Xiaoliang Deng, Yanqun Luo, Haiping Xue, Lei Wang, Lianjun Xing, Tao Wu   +7 more
wiley   +1 more source

Mucopolysaccharidosis: MRI Study

, 1992
Characteristic changes in the MRI of 2 brothers with mucopolysaccharidosis type I are reported from the Departments of Paediatrics, Neuroradiology and Neurology, University of Ancona ...
J Gordon Millichap
core   +1 more source

Toward a Core Outcome Set for Head, Neck, and Respiratory Disease in Mucopolysaccharidosis Type II: Systematic Literature Review and Assessment of Heterogeneity in Outcome Reporting

Journal of Inborn Errors of Metabolism and Screening, 2019
The mucopolysaccharidoses (MPS) are a relatively uncommon group of inherited metabolic disorders, with significant negative implications for life span and aspects of quality of life.
Aleksandra Metryka, Nailah Brown, Jean Mercer, Stuart Wilkinson, Simon Jones, Paula Williamson, Iain Bruce   +6 more
doaj   +1 more source

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, Volume 41, Issue 9, Page 2349-2356, September 2026.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source