Results 71 to 80 of about 21,613 (172)

Mucopolysaccharidosis in children as seen through the eyes of an ophthalmologist

Mucopolysaccharidosis is a rare, genetically determined metabolic disease. It arises from abnormalities related to the absence or deficiency of lysosomal enzymes needed to break down glycosaminoglycans.
Katarzyna Piasecka, Anna Niwald, Mirosława Grałek   +2 more
core   +1 more source

Molecular Dynamics Reveals a Glycan Conformation Underlying IDUA Dysfunction in Attenuated MPS I [PDF]

J Cell Mol Med
ABSTRACT Mucopolysaccharidosis Type I (MPS I) is a rare autosomal recessive lysosomal storage disorder caused by mutations in α‐ʟ‐iduronidase (IDUA) enzyme, a glycosylated hydrolase responsible for glycosaminoglycan (GAG) degradation. Pathogenic variants are associated with a broad clinical spectrum, from severe Hurler syndrome to attenuated Scheie ...
Papadopoulos M, Bonapace G, Taglietti L, Ferla B, Rizzi R, Pitaro M, Concolino D, Alberga D, Mangiatordi G.   +8 more
europepmc   +2 more sources

Lysosomal Dysfunction Is Associated With Intervertebral Disc Degeneration: Multiomics and Machine Learning Identify Molecular Subtypes and Hub Genes

The Journal of Gene Medicine, Volume 28, Issue 9, September 2026.
Intervertebral disc degeneration (IVDD) is linked to lysosomal dysfunction, impaired autophagic degradation, and cellular senescence. Integrating bulk and single‐cell transcriptomics with machine learning, this study identified two lysosome‐related molecular subtypes and four hub genes: HYAL1, MMD, PLD3, and ANK3.
Yang Yang, Hong Li, Yixuan Ou, Yaping Yu, Kaiqiang Sun, Shixing Chen, Chenglong Ji   +6 more
wiley   +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

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +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

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

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

Anesthesiological risks in mucopolysaccharidoses

Italian Journal of Pediatrics, 2018
Background Patients suffering from mucopolysaccharidosis are among the most complex from the anesthesiological point of view, especially regarding the management of the airway.
Alessandra Moretto, Maria Grazia Bosatra, Laura Marchesini, Simonetta Tesoro   +3 more
doaj   +1 more source

Bone marrow transplantation in patients with storage diseases: a developing country experience

Arquivos de Neuro-Psiquiatria, 2006
Bone marrow transplantation (BMT) is a therapeutic option for patients with genetic storage diseases. Between 1979 and 2002, eight patients, four females and four males (1 to 13 years old) were submitted to this procedure in our center.
Lange Marcos C., Teive Hélio A.G., Troiano André R., Bitencourt Marco, Funke Vaneuza A.M., Setúbal Daniela C., Zanis Neto José, Medeiros Carlos R., Werneck Lineu C., Pasquini Ricardo, Bonfim Carmen M.S.   +10 more
doaj