Results 61 to 70 of about 15,739 (180)

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

Early Versus Late Enzyme Replacement Therapy in Siblings With Morquio A Syndrome: Insights Into Therapeutic Timing

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Enzyme replacement therapy (ERT) with elosulfase alfa is the only approved treatment for mucopolysaccharidosis type IVA. This case report delineates the 5‐year outcomes of ERT in two Korean siblings with mucopolysaccharidosis type IVA, with the younger sibling initiating treatment at 0.8 years of age and the older one at 5.4 years.
Shinjie Choi, Hyoungmin Kim, Tae‐Joon Cho, Jung Min Ko   +3 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

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Audiometric evaluation in individuals with mucopolysaccharidosis

Clinics, 2018
OBJECTIVES: To characterize the audiometric evaluation and acoustic immittance measures in different types of mucopolysaccharidosis. METHOD: Fifty-three mucopolysaccharidosis patients were evaluated.
Marcela Rosana Maia da Silveira, Ana Karina Lima Buriti, Ana Maria Martins, Daniela Gil, Marisa Frasson de Azevedo   +4 more
doaj   +1 more source

RNF13 is a previously undescribed interactor of iduronate 2‐sulfatase that modifies its glycosylation and maturation

The FEBS Journal, Volume 293, Issue 14, Page 4206-4231, July 2026.
Iduronate 2‐sulfatase (IDS; purple) is expressed as a precursor protein that goes through multiple steps of maturation, modification, and trafficking to become an active lysosomal enzyme that degrades glycosaminoglycans. Our study shows that the transmembrane ubiquitin ligases RNF13 (orange) and RNF167 (pink) heterodimerize, affecting IDS intracellular
Valérie C. Cabana, Antoine Y. Bouchard, Audrey M. Sénécal, Laurent Cappadocia, Marc P. Lussier   +4 more
wiley   +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  

A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)

Clinical Case Reports, 2018
Key Clinical Message Homozygous or compound heterozygous mutation in the gene encoding N‐alpha‐acetylglucosaminidase (NAGLU) on chromosome 17q21 results in Sanfilippo B, resulting in excess accumulation of intralysosomal glycosaminoglycans ...
Dineshani Hettiarachchi, Nilaksha Nethikumara, Bamunu Arachchi Pathiranage Sajeewani Pathirana, Kalum Weththasigha, Weerabaddana Dilshani Niluka Dissanayake, Vajira H. W. Dissanayake   +5 more
doaj   +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

Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate

Diagnostics
Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS).
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Agnieszka Ługowska, Jolanta Marucha, Katarzyna Drabko, Anna Tylki-Szymańska   +5 more
doaj   +1 more source