Article
Immunology
Xuefang Pan, Mahsa Taherzadeh, Poulomee Bose, Rachel Heon-Roberts, Annie L. A. Nguyen, TianMeng Xu, Camila Para, Yojiro Yamanaka, David A. Priestman, Frances M. Platt, Shaukat Khan, Nidhi Fnu, Shunji Tomatsu, Carlos R. Morales, Alexey Pshezhetsky
Summary: The majority of MPS IIIC patients have missense variants causing misfolding of HGSNAT, which can be potentially treated with pharmacological chaperones. A novel mouse model expressing a misfolded HGSNAT variant shows deficits in memory and neuroimmune response, which can be rescued by treatment with a chaperone, glucosamine.
JOURNAL OF EXPERIMENTAL MEDICINE
(2022)
Article
Genetics & Heredity
Erin T. Strovel, Kristina Cusmano-Ozog, Tim Wood, Chunli Yu
Summary: Assays that measure lysosomal enzyme activity are crucial for diagnosing and screening lysosomal storage disorders. This document provides guidance for clinical enzyme testing, including test performance variables and the need for follow-up molecular testing.
GENETICS IN MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Victor J. Alvarez, Susana B. Bravo, Maria Pilar Chantada-Vazquez, Cristobal Colon, Maria J. De Castro, Montserrat Morales, Isidro Vitoria, Shunji Tomatsu, Francisco J. Otero-Espinar, Maria L. Couce
Summary: MPS IVA is a lysosomal storage disease caused by mutations in the GALNS gene, leading to skeletal dysplasia. Enzyme replacement therapy has shown positive results in improving daily activities, but further research is needed to assess its impact on bone lesions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Jenna Magat, Samantha Jones, Brian Baridon, Vishal Agrawal, Hio Wong, Alexander Giaramita, Linley Mangini, Britta Handyside, Catherine Vitelli, Monica Parker, Natasha Yeung, Yu Zhou, Erno Pungor, Ilya Slabodkin, Olivia Gorostiza, Allora Aguilera, Melanie J. Lo, Saida Alcozie, Terri M. Christianson, Pascale M. N. Tiger, Jon Vincelette, Sylvia Fong, Geuncheol Gil, Chuck Hague, Roger Lawrence, Daniel J. Wendt, Jonathan H. Lebowitz, Stuart Bunting, Sherry Bullens, Brett E. Crawford, Sushmita M. Roy, Josh C. Woloszynek
Summary: This study demonstrates the efficacy of rhSGSH in treating MPS IIIA through intracerebroventricular delivery. RhSGSH can completely normalize lysosomal HS storage and markers of neuroimmune response.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2022)
Article
Multidisciplinary Sciences
Kari Pollock, Sabrina Noritake, Denise M. Imai, Gabrielle Pastenkos, Marykate Olson, Whitney Cary, Sheng Yang, Fernando A. Fierro, Jeannine White, Justin Graham, Heather Dahlenburg, Karl Johe, Jan A. Nolta
Summary: A novel immune deficient MPSIIIA mouse model (MPSIIIA-TKO) was created in this study, which exhibits the MPSIIIA disease phenotype and lacks T cells, B cells, and NK cells. This model has the potential to test human cellular therapies in animal models.
SCIENTIFIC REPORTS
(2023)
Review
Medicine, General & Internal
Chung-Lin Lee, Chih-Kuang Chuang, Chyong-Hsin Hsu, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Summary: This study reports the first case of MPS type VII in Taiwan and highlights the importance of early recognition and prompt diagnosis of MPS.
JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
(2022)
Article
Biochemistry & Molecular Biology
Jose V. Alvarez, Susana B. Bravo, Maria Pilar Chantada-Vazquez, Sofia Barbosa-Gouveia, Cristobal Colon, Olalla Lopez-Suarez, Shunji Tomatsu, Francisco J. Otero-Espinar, Maria L. Couce
Summary: MPS IVA is a lysosomal disease caused by mutations in the GALNS gene, characterized by systemic skeletal dysplasia. ERT has improved daily living activities and endurance tests, but recovery of bone lesions has not been proven. This study identified four potential protein biomarkers for MPS IVA, which may influence bone and cartilage metabolism.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Hidetomi Terai, Koji Tamai, Masatoshi Hoshino, Hiromitsu Toyoda, Akinobu Suzuki, Shinji Takahashi, Yusuke Hori, Akito Yabu, Hiroaki Nakamura
Summary: This study reports the midterm clinical and radiological outcomes of laminoplasty in six patients with LSD. All patients showed effective control and improvement of their condition within an average of 5 years postoperatively.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Review
Biochemistry & Molecular Biology
Zbigniew Zuber, Beata Kiec-Wilk, Lukasz Kaluzny, Jolanta Wierzba, Anna Tylki-Szymanska
Summary: Hunter syndrome is a rare lysosomal storage disease caused by mutations in the IDS gene, leading to deficiency of the enzyme iduronate-2-sulphatase and accumulation of glycosaminoglycans. It affects multiple systems and requires an interdisciplinary team for treatment and monitoring.
Review
Endocrinology & Metabolism
Berna Seker Yilmaz, James Davison, Simon A. Jones, Julien Baruteau
Summary: MPS III, a neurodegenerative disease, currently lacks disease-modifying therapy, but multiple curative therapies have been developed, emphasizing the importance of early treatment before extensive neuronal loss occurs.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Medicine, General & Internal
Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin
Summary: The study found that aortic root dilatation is common in patients with MPS, with the most severe dilation seen in MPS IV patients. The severity of aortic root dilatation worsens with age. Enzyme replacement therapy appears to stabilize the progression of aortic root dilatation in MPS patients.
Article
Chemistry, Analytical
S. Madanan Anju, Susan Varghese, K. Abraham Merin, Ali Ibrahim Shkhair, Sony George
Summary: In this study, positively charged green-emitting gold nanoclusters were synthesized and conjugated with heparin to serve as a fluorescence probe for the non-enzymatic detection of cardiac troponin I.
SENSORS AND ACTUATORS B-CHEMICAL
(2023)
Article
Gastroenterology & Hepatology
Barbara K. Burton, Francois Feillet, Katryn N. Furuya, Sachin Marulkar, Manisha Balwani
Summary: This study reports the final results of using sebelipase alfa enzyme replacement therapy in patients with LAL-D for up to 5 years. It shows that this treatment can sustain improvements in liver function and lipid abnormalities without progression of liver disease.
JOURNAL OF HEPATOLOGY
(2022)
Article
Peripheral Vascular Disease
Tomoyo Hara, Ryoko Uemoto, Akiko Sekine, Yukari Mitsui, Shiho Masuda, Hiroki Yamagami, Kiyoe Kurahashi, Sumiko Yoshida, Toshiki Otoda, Tomoyuki Yuasa, Akio Kuroda, Yasumasa Ikeda, Itsuro Endo, Soichi Honda, Katsuhiko Yoshimoto, Akira Kondo, Toshiaki Tamaki, Toshio Matsumoto, Munehide Matsuhisa, Masahiro Abe, Ken-ich Aihara
Summary: In this study, plasma HCII activity was found to be associated with the severity of NAFLD. Multiple regression analysis showed that plasma HCII activity independently decreased FIB-4 index, NFS and APRI. Logistic regression analysis indicated that plasma HCII activity was the sole negative factor for the prevalence of advanced hepatic fibrosis in NAFLD patients.
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS
(2023)
Article
Genetics & Heredity
Marie Julianne C. Racoma, Maria Kristina Karizza B. Calibag, Cynthia P. Cordero, Mary Ann R. Abacan, Mary Anne D. Chiong
Summary: This study reviewed the clinical outcomes of Filipino MPS II patients who were treated with idursulfase and those who were untreated. The treated group showed improvements in various endpoints, while the untreated group exhibited typical disease progression.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Pediatrics
Graham Sinclair, Sorcha Collins, Laura Arbour, Hilary Vallance
PAEDIATRICS & CHILD HEALTH
(2019)
Article
Genetics & Heredity
Allison M. Matthews, Ingrid Blydt-Hansen, Basmah Al-Jabri, John Andersen, Maja Tarailo-Graovac, Magda Price, Katherine Selby, Michelle Demos, Mary Connolly, Britt Drogemoller, Casper Shyr, Jill Mwenifumbo, Alison M. Elliott, Jessica Lee, Aisha Ghani, Sylvia Stockler, Ramona Salvarinova, Hilary Vallance, Graham Sinclair, Colin J. Ross, Wyeth W. Wasserman, Margaret L. McKinnon, Gabriella A. Horvath, Helly Goez, Clara D. van Karnebeek
GENETICS IN MEDICINE
(2019)
Article
Medical Laboratory Technology
Theresa H. Schroder, Amy Tan, Andre Mattman, Graham Sinclair, Susan Barr, Hilary D. Vallance, Yvonne Lamers
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2019)
Article
Endocrinology & Metabolism
Uma Ramaswami, Daniel G. Bichet, Lorne A. Clarke, Gabriela Dostalova, Alejandro Fainboim, Andreas Fellgiebel, Cassiano M. Forcelini, Kristina An Haack, Robert J. Hopkin, Michael Mauer, Behzad Najafian, C. Ronald Scott, Suma P. Shankar, Beth L. Thurberg, Camilla Tondel, Anna Tylki-Szyrnanska, Bernard Benichou, Frits A. Wijburg
MOLECULAR GENETICS AND METABOLISM
(2019)
Article
Pediatrics
Isaac M. Elias, Graham Sinclair, Tom D. Blydt-Hansen
PEDIATRIC TRANSPLANTATION
(2019)
Article
Genetics & Heredity
Lorne A. Clarke, Roberto Giugliani, Nathalie Guffon, Simon A. Jones, Hillary A. Keenan, Maria Munoz-Rojas, Torayuki Okuyama, David Viskochil, Chester B. Whitley, Frits A. Wijburg, Joseph Muenzer
Article
Pediatrics
Alison M. Elliott, Christele du Souich, Anna Lehman, Ilaria Guella, Daniel M. Evans, Tara Candido, Leah Tooman, Linlea Armstrong, Lorne Clarke, William Gibson, Harinder Gill, Pascal M. Lavoie, Suzanne Lewis, Margaret L. McKinnon, Sarah M. Nikkel, Millan Patel, Alfonso Solimano, Anne Synnes, Joseph Ting, Margot van Allen, Jan Christilaw, Matthew J. Farrer, Jan M. Friedman, Horacio Osiovich
EUROPEAN JOURNAL OF PEDIATRICS
(2019)
Article
Nutrition & Dietetics
Maria F. Mujica-Coopman, Amy Tan, Theresa H. Schroder, Graham Sinclair, Hilary D. Vallance, Yvonne Lamers
JOURNAL OF NUTRITION
(2019)
Article
Pediatrics
Danya A. Fox, Rebecca Ronsley, Asif R. Khowaja, Alon Haim, Hilary Vallance, Graham Sinclair, Shazhan Amed
JOURNAL OF PEDIATRICS
(2020)
Article
Pediatrics
Or Golan, Roger Dyer, Graham Sinclair, Tom Blydt-Hansen
Summary: The study revealed that oxythiamine levels are associated with dialysis adequacy at transplantation, with peritoneal dialysis patients showing higher oxythiamine levels, especially those with residual kidney function. This may increase the risk of developing acute Shoshin beriberi syndrome in the early post-transplant period.
PEDIATRIC NEPHROLOGY
(2021)
Article
Pediatrics
Hilary Vallance, Graham Sinclair, Bojana Rakic, Sylvia Stockler-Ipsiroglu
Summary: Global developmental delay and intellectual disability affect 3% of the paediatric population, while inborn errors of metabolism are not common but early therapeutic intervention can improve neurodevelopmental manifestations. A first-tier test panel was piloted to community-based paediatricians in British Columbia in an attempt to achieve earlier diagnosis of treatable IEM.
PAEDIATRICS & CHILD HEALTH
(2021)
Article
Medicine, Research & Experimental
Courtney B. Cook, Linlea Armstrong, Cornelius F. Boerkoel, Lorne A. Clarke, Christele du Souich, Michelle K. Demos, William T. Gibson, Harinder Gill, Elena Lopez, Millan S. Patel, Kathryn Selby, Ziad Abu-Sharar, Alison M. Elliott, Jan M. Friedman
Summary: Identifying genetic mosaicism is crucial for establishing a diagnosis, assessing recurrence risk, and providing accurate genetic counseling. Genome-wide sequencing can detect mosaicism, allowing for more precise genetic counseling.
COLD SPRING HARBOR MOLECULAR CASE STUDIES
(2021)
Article
Genetics & Heredity
Lynda E. Polgreen, Luisa Bay, Lorne A. Clarke, Nathalie Guffon, Simon A. Jones, Joseph Muenzer, Ana Lorena Flores, Kathryn Wilson, David Viskochil
Summary: In individuals with attenuated MPS I, enzyme replacement therapy with laronidase was associated with slower declines in height z-scores compared to the natural history period, leading to slightly improved growth curves.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Lorne A. Clarke, Patricia Dickson, N. Matthew Ellinwood, Terri L. Klein
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2020)
Article
Genetics & Heredity
Graham Sinclair, Vanessa McMahon, Amy Schellenberg, Tanya N. Nelson, Mark Chilvers, Hilary Vallance
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2020)