Results 71 to 80 of about 11,933,855 (190)

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

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

Osteoarthropathy in mucopolysaccharidosis type II.

Clujul medical (1957), 2015
Mucopolysaccharidosis type II (MPS type II, Hunter syndrome) is a rare (~ 1/1500.000), X-linked inherited disorder (affects boys) due to deficiency of the lysosomal enzyme iduronate sulfatase (Xq.28). The complex clinical picture includes osteoarthropathy with a tendency to flexion stiffness and disability.
Ioana, Nascu, Paula, Grigorescu-Sido, Camelia, Al-Khzouz, Simona, Bucerzan, Carmencita, Denes, Cecilia, Lazea   +5 more
openaire   +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

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

, 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

Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future

, 2017
David AH Whiteman,* Alan Kimura* Research & Development, Shire Human Genetic Therapies, Inc., Lexington, MA, USA *These authors contributed equally to this work Abstract: Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is
Whiteman DAH, Kimura A
core  

Osteoporosis in mucopolysaccharidosis type II (Hunter's syndrome)

, 2002
The paper deals with risk of osteoporosis in children with mucopolysaccharidosis type II (or Hunter's syndrome)
Rigante, D
core  

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey

, 2010
To use our experience with patients in the observational database HOS - the Hunter Outcome Survey - to evaluate the feasibility of home infusions of idursulfase for patients with mucopolysaccharidosis type II (MPS II)
Barbara K. Burton, Jones, SA, Burton, BK, GUFFON N, VAN DER PLOEG AT, Jane Roberts, van der Ploeg, Ans, SCARPA, MAURIZIO, BURTON BK, Guffon, N, Simon A. Jones, Feliciani, Claudio, ROBERTS J, Nathalie Guffon, Ans T. van der Ploeg, JONES SA, Roberts, J   +16 more
core   +1 more source

Role of elosulfase alfa in mucopolysaccharidosis IVA [PDF]

, 2016
Debra S Regier, Pranoot Tanpaiboon Division of Genetics and Metabolism, Children’s National Medical Center, Washington, DC, USA Abstract: Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive lysosomal storage disease
Regier, Debra S., Tanpaiboon, Pranoot, Regier DS, Tanpaiboon P   +3 more
core   +1 more source

Mediastinal Tracheostoma for Treatment of Tracheostenosis after Tracheostomy in a Patient with Mucopolysaccharidosis-Induced Tracheomalacia

Case Reports in Surgery, 2017
Background. Treatment of tracheostenosis after tracheostomy in pediatric patients is often difficult. Mucopolysaccharidosis is a lysosomal storage disease that may induce obstruction of the airways. Case Presentation. A 16-year-old male patient underwent
Yasuhiro Chikaishi, Kenichi Kobayashi, Shuichi Shinohara, Akihiro Taira, Yusuke Nabe, Shinji Shinohara, Taiji Kuwata, Masaru Takenaka, Soichi Oka, Ayako Hirai, Kazue Yoneda, Koji Kuroda, Naoko Imanishi, Yoshinobu Ichiki, Fumihiro Tanaka   +14 more
doaj   +1 more source