Results 81 to 90 of about 7,143 (200)

Mucopolysaccharidoses -An Adventurous Anaesthetic Encounter

Indian Journal of Anaesthesia, 2008
Cases of Mucopolysaccharidoses (MPS), though rare, may pose many challenges for the anaesthesiologist. Maintaining the airway may be extremely difficult even in the most experienced hands.
Madhuri S Kurdi, S S Deshpande
doaj  

Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient

Iranian Biomedical Journal, 2020
Background: Glutaric acidemia (GAI) and mucopolysaccharidosis type IIIB (MPSIIIB) are two rare genetic disorders caused by pathogenic variants in two different genes.
Mohammad Reza Alaei, Meghdad Kheirkhahan, Saeed Talebi, Elham Davoudi-Dehaghani, Mohammad Keramatipour   +4 more
doaj  

Bedside intubation of a child with a difficult airway—The otolaryngologist perspective

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 3, Page 417-424, September 2025.
Abstract Objectives Children with a difficult airway are prone to severe complications in unplanned intubation events. The otolaryngologist is often required to secure the airway using advanced techniques once the traditional methods have failed to establish safe tracheal intubation.
Inbal Hazkani, Matthew J. Rowland, Maeve A. Serino, Ashley Young, Taher Valika, Saied Ghadersohi, Jonathan B. Ida   +6 more
wiley   +1 more source

Lysosomal storage diseases as a complex pathophysiological and clinical problem - part one

Quality in Sport
Lysosomal storage diseases (LSDs) are a group of rare genetic diseases that are characterized by the accumulation of undecomposed molecules in lysosomes due to deficits in specific enzymes.
Karolina Mikołajczak
doaj   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Findings in Two Cases with Mucopolysaccharidoses

Türk Oftalmoloji Dergisi, 2020
The mucopolysaccharidoses are a group of disorders caused by inherited defects in lysosomal enzymes resulting in widespread intracellular and extracellular accumulation of glycosaminoglycans.
Yalçın Karaküçük, Banu Bozkurt, Merve Şahin, Süleyman Okudan   +3 more
doaj   +1 more source

International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis, Laura Agresta, William E. Bennett Jr, Henry Chambers, Antonia Clarke, Charlie Fairhurst, Julie Hoover‐Fong, Feilim Murphy, Garey Noritz, Scott Schwantes, Michael Shreve, Kabelo Thusang, Darcy Weidemann, Rebecca Beale, Aditi Mehta, Andrew Wilhelmsen, Nuala Summerfield   +16 more
wiley   +1 more source

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation

Diagnostics, 2020
The effectiveness of hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis type II (MPS II, Hunter disease) remains controversial although recent studies have shown HSCT provides more clinical impact.
Yasuyuki Suzuki, Madeleine Taylor, Kenji Orii, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu   +5 more
doaj   +1 more source

Glycosaminoglycans in the human cornea: age-related changes [PDF]

, 2015
AIM: To investigate possible age-related changes in glycosaminoglycans (GAGs) in the human cornea. The substances today called GAGs were previously referred to as mucopolysaccharides.
Anello, Giulia, Cavallotti, Carlo, De Paolis, Giulio, Pacella, Elena, Pacella, Fernanda, Parisella, Francesca Romana, Turchetti, Paolo   +6 more
core   +2 more sources

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome [PDF]

, 2016
OBJECTIVE: To present long-term respiratory function outcomes from an open-label, multi-center, phase 3 extension study (MOR-005) of elosulfase alfa enzyme replacement therapy (ERT) in patients with Morquio A syndrome.
AlSayed, MD, Berger, KI, Burton, BK, Decker, C, Giugliani, R, Guelbert, N, Harmatz, PR, Hendriksz, CJ, Hughes, DA, Jurecki, E, Matousek, R, Mitchell, JJ, Parini, R, Raiman, J, Stewart, F   +14 more
core   +2 more sources