Results 71 to 80 of about 12,452,915 (192)

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

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow‐Up

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT This study investigated long‐term cognitive development and genotype–phenotype relationships in patients with Mucopolysaccharidosis Type II (MPS II). A nationwide prospective cohort study was conducted in the Netherlands with cognitive follow‐up since 2007.
J. (Julia) Holdorp, M. E. (Michelle) Kruijshaar, A. A. M. (Audrey) Vollebregt, A. B. (Andre) Rietman, M. R. K. (Marianne) Dijkstra, C. (Carina) Klees, M. (Margreet) Wagenmakers, A. H. P. (Annie) Nguyen, E. (Esmee) Oussoren, A. T. (Ans) van der Ploeg, J. M. P. (Hannerieke) van den Hout   +10 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, LAMPE C, JONES SA, Paul Harmatz, PARINI R, Robert D. Steiner, Jones, SA, Burton, BK, Giugliani, R, Malm, G, Steiner, RD, Parini, R, Mendelsohn, NJ, Harmatz, P, Lampe, C, FELICIANI, Claudio, Malm, G,, Bodamer, O   +32 more
core   +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

Amino Acid Metabolism in Health and Disease

MedComm, Volume 7, Issue 9, September 2026.
This graphical abstract delineates the multifaceted role of amino acid metabolism in health and disease. It illustrates how amino acids sustain physiological homeostasis across the liver, kidney, brain, heart, intestine, muscle, skeleton, and immune system.
Zhiwei Su, Jinyu Liu, Xiaoliang Deng, Yanqun Luo, Haiping Xue, Lei Wang, Lianjun Xing, Tao Wu   +7 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

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  

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, Volume 46, Issue 10, Page 1557-1564, September 2026.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +1 more source

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment [PDF]

, 2020
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles Hunter in 1917. Since then, about one hundred years have passed and Hunter syndrome, although at first neglected for a few decades and afterwards mistaken for a ...
Tomanin, Rosella, Francesca D’Avanzo, Rosella Tomanin, Rigon, Laura, Zanetti, Alessandra, D'Avanzo, Francesca, Alessandra Zanetti, Laura Rigon   +7 more
core   +1 more source

Comparison of growth patterns of patients with mucopolysaccharidosis type II who started enzyme replacement therapy before 6 years of age and patients who were naïve to ERT.

, 2014
Comparison of growth patterns of patients with mucopolysaccharidosis type II who started enzyme replacement therapy before 6 years of age and patients who were naïve to ERT.
Anna Tylki-Szymańska (508670), Agnieszka Różdżyńska-Świątkowska (508668), Agnieszka Jurecka (508669), Zbigniew Żuber (508667)   +3 more
core   +1 more source