Results 71 to 80 of about 9,431 (199)

Inclusion Cell Disease - A Rare Cause of Megalocornea with Corneal Edema

Delhi Journal of Ophthalmology, 2018
Inclusion cell disease (I cell disease), also known as mucolipidosis type II, is a rare congenital metabolic storage disorder which seemingly occupies an intermediate position between mucopolysaccharidosis and sphingolipidosis.1 We are hereby presenting ...
Namrata, Rahul Ranjan, Gaurav Arya
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

Plasmatic and urinary glycosaminoglycans characterization in mucopolysaccharidosis II patient treated with enzyme-replacement therapy with idursulfase [PDF]

, 2012
Plasmatic and urinary glycosaminoglycans characterization in mucopolysaccharidosis II patient treated with enzyme-replacement therapy with ...
VOLPI, Nicola
core  

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey [PDF]

, 2010
To characterize surgical histories typical of patients with mucopolysaccharidosis type II, thereby broadening understanding of the natural history of these patients and helping physicians recognize the ...
MALM G, Barbara K. Burton, Gunilla Malm, HARMATZ P, Nancy J. Mendelsohn, Christina Lampe, SCARPA, MAURIZIO, Olaf Bodamer, BODAMER O, BURTON BK, Rossella Parini, MENDELSOHN NJ, GIUGLIANI R, Simon A. Jones, STEINER RD, Roberto Giugliani, Feliciani, Claudio, LAMPE C, JONES SA, Paul Harmatz, PARINI R, Robert D. Steiner   +21 more
core   +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

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II [PDF]

, 2016
Approximately two-thirds of patients with the lysosomal storage disease mucopolysaccharidosis II have progressive cognitive impairment. Intravenous (i.v.) enzyme replacement therapy does not affect cognitive impairment because recombinant iduronate-2 ...
Perry, Victor, Ann J. Barbier, Barbier, Ann J., Wang, Nan, Hendriksz, Christian J., Solanki, Guirish A., Pan, Luying, Zheng Fan, Sciarappa, Kenneth, Luying Pan, Christian J. Hendriksz, Kenneth Sciarappa, Santra, Saikat, Nan Wang, Mascelli, Mary Ann, Victor Perry, Saikat Santra, Vijayaraghavan, Suresh, Mary Ann Mascelli, Joseph Muenzer, Suresh Vijayaraghavan, Guirish A. Solanki, Muenzer, Joseph, Fan, Zheng   +23 more
core   +2 more sources

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

alpha-L-Iduronidase and enzyme replacement therapy for mucopolysaccharidosis I [PDF]

, 2002
Mucopolysaccharidosis I (McKusick 25280, Hurler syndrome, Scheie syndrome) is caused by a deficiency in the lysosomal hydrolase, α-L-iduronidase (EC 3.2.1.76) and results in a failure to degrade the glycosaminoglycans, dermatan sulfate and heparan ...
Brooks, D.
core   +1 more source

The Underestimated Role of Environmental Factors in the Prevention of Invasive Fungal Disease: Experience From a European Childhood Cancer Centre

Mycoses, Volume 69, Issue 7, July 2026.
ABSTRACT Background Immunocompromised children with hematologic malignancies or undergoing allogeneic haematopoietic stem cell transplantation (HSCT) are at high risk for invasive fungal diseases (IFDs). Reported incidence varies considerably due to heterogeneous diagnostic criteria, antifungal strategies and environmental conditions.
Stefano Malvestiti, Felicia Andresen, Markus Hufnagel, Carsten Speckmann, Brigitte Strahm, Tobias Feuchtinger, Alexander Puzik   +6 more
wiley   +1 more source

EVALUATION OF HEMATOLOGIC FINDINGS IN MUCOPOLYSACCHARIDOSIS CASES [PDF]

, 2020
Introduction: Mucopolysaccharidosis (MPS) are lysosomal storage diseases characterized by chronic, progressive and multiple system involvement due to impaired glycosaminoglycans destruction. There are 7 types of MPS as type I, II, III, IV, VI, VII and IX.
Karaca, Meryem, Cakar, Nafiye Emel
core   +1 more source