Results 61 to 70 of about 5,715,301 (195)

Prospective study of 11 Brazilian patients with mucopolysaccharidosis II [PDF]

Jornal de Pediatria, 2006
To assess the progression of mucopolysaccharidosis II in 11 Brazilian patients over a 12-month period.Eleven Brazilian patients with mucopolysaccharidosis II were prospectively studied at the Division of Medical Genetics of Hospital de Clínicas de Porto Alegre.
Louise L. C. Pinto, Ida V. D. Schwartz, Ana C. S. Puga, Taiane A. Vieira, Maria Verônica R. Munoz, Roberto Giugliani, Grupo de Estudos sobre MPS II   +6 more
openaire   +3 more sources

Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms

EMBO Molecular Medicine, 2018
The pediatric lysosomal storage disorder mucopolysaccharidosis type II is caused by mutations in IDS, resulting in accumulation of heparan and dermatan sulfate, causing severe neurodegeneration, skeletal disease, and cardiorespiratory disease.
Hélène FE Gleitz, Ai Yin Liao, James R Cook, Samuel F Rowlston, Gabriella MA Forte, Zelpha D'Souza, Claire O'Leary, Rebecca J Holley, Brian W Bigger   +8 more
doaj   +1 more source

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

Molecular Genetics and Metabolism Reports, 2017
There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter ...
Olaf Bodamer, Maurizio Scarpa, Christina Hung, Tom Pulles, Roberto Giugliani   +4 more
doaj   +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

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

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

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation

Objective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF).
Yulia V. Maximova, Aleksandr M. Nikonov, Sergei I. Kutsev, Elena V. Osipova, Vera I. Kurilova, Khasyanya F. Aksyanova, Nina I. Kononenko, Mikhail M. Kostik, Yulia S. Koshevaya, Elena G. Bakulina, Ekaterina Yu. Zakharova, Anastasia O. Vechkasova, Natalia V. Buchinskaia, Rostislav K. Skitchenko   +13 more
core   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source