Results 71 to 80 of about 25,294 (214)

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan

Diagnostics, 2019
Background: The mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) and which eventually cause progressive damage to various tissues and organs.
Hsiang-Yu Lin, Chung-Lin Lee, Yun-Ting Lo, Ru-Yi Tu, Ya-Hui Chang, Chia-Ying Chang, Pao Chin Chiu, Tung-Ming Chang, Wen-Hui Tsai, Dau-Ming Niu, Chih-Kuang Chuang, Shuan-Pei Lin   +11 more
doaj   +1 more source

Damages of Cardiovascular System at Mucopolysaccharidosis Type I: Clinical Cases

Вопросы современной педиатрии, 2020
Background. Cardiac involvement in patients with mucopolysaccharidosis (MPS) type I, or Hurler syndrome, has various phenotypes.Clinical Case Description.
Elena S. Vasichkina, Tatyana L. Vershinina, Tatyana S. Kovalchuk, Ekaterina N. Blinova, Elizaveta V. Malkina, Tatyana M. Pervunina   +5 more
doaj   +1 more source

Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis [PDF]

, 2020
The effectiveness of hematopoietic stem cell transplantation (HSCT) for type-VII mucopolysaccharidosis (MPS VII, Sly syndrome) remains controversial, although recent studies have shown that it has a clinical impact. In 1998, Yamada et al.
Fukao, Toshiyuki, Orii, Kenji, Orii, Tadao, Suzuki, Yasuyuki, Tomatsu, Shunji   +4 more
core   +1 more source

Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I [PDF]

, 2017
Umbilical cord blood (UCB) is a promising source of stem cells to use in early haematopoietic stem cell transplantation (HSCT) approaches for several genetic diseases that can be diagnosed at birth.
A Oikawa, A Pievani, A Pievani, A Scaradavou, AE Willing, B Sacchetti, C Davenport, C Schulte, CM Simonaro, DC Mendez, DE Harrison, DE Harrison, DJ Rowan, DK Kim, DL Selle, DT Harris, F Gatto, F Kubaski, F Migishima, FL Wilkinson, HE Broxmeyer, J Palis, JJ Boelens, K Ohmi, K Uchida, K Uchida, KK Ballen, L Lu, LA Clarke, LA Clarke, M Aldenhoven, M Aldenhoven, M Aldenhoven, M Aldenhoven, M Beck, M Schmidt, ME Bernardo, MF Garcia-Rivera, O Levy, S Coşkun, S Garbuzova-Davis, S Jayaraman, S Tomatsu, S Tomatsu, S Tomatsu, SC Kuehn, SH Boyer, SJ Morrison, SL Staba, VK Prasad, VK Prasad, W Chuan, XY Zhong, Y Zheng, ZY Li   +54 more
core   +2 more sources

Mucopolysaccharidosis IVA and glycosaminoglycans [PDF]

Molecular Genetics and Metabolism, 2017
Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS).
Shaukat, Khan, Carlos J, Alméciga-Díaz, Kazuki, Sawamoto, William G, Mackenzie, Mary C, Theroux, Christian, Pizarro, Robert W, Mason, Tadao, Orii, Shunji, Tomatsu   +8 more
openaire   +2 more sources

Short‐Term Oral Spermidine Supplementation Modifies Aspects of Neurodegenerative Disease in Flies and Mice With MPS III

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Mucopolysaccharidosis type III (MPS III) is a group of autosomal recessive neurodegenerative lysosomal storage disorders that causes progressive cognitive and physical impairment, predominantly in child/early adulthood. The median age of death is 17 years as there is no safe, effective treatment approved.
Helen Beard, Sonia Dayan, Karissa Barthelson, Laura Hewson, Louise V. O'Keefe, Kim M. Hemsley   +5 more
wiley   +1 more source

Assessment and management of over-activity and sleep disorder in mucopolysaccharidoses [PDF]

, 2018
There is a growing awareness, based on both research and clinical studies, that abnormal sleep and circadian functioning are associated with the various forms of mucopolysaccharidoses (MPS), with sleep respiratory problems seemingly common in many forms ...
Hare, Dougal, Mahon, Louise, Rust, Stewart   +2 more
core   +2 more sources

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II [PDF]

, 2011
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS).
Latifa Chkioua, Souhir Khedhiri, Salima Ferchichi, Rémy Tcheng, Henda Chahed, Roseline Froissart, Christine Vianey-Saban, Sandrine Laradi, Abdelhedi Miled   +8 more
core   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source