Mucopolysaccharidosis: MRI Study

by J Gordon Millichap
Published 1992-09-01

Hurler–Scheie syndrome in Niger: a case series

by Hamid Assadeck, Moussa Toudou Daouda, Harouna Bako, Fatimata Hassane Djibo
Published 2019-04-01

Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population

by Chkioua Latifa, Khedhiri Souhir, Ben Turkia Hadhami, Chahed Henda, Ferchichi Salima, Ben Dridi Marie, Laradi Sandrine, Miled Abdelhedi
Published 2011-11-01

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

by Christiane S. Hampe, Julie B. Eisengart, Troy C. Lund, Paul J. Orchard, Monika Swietlicka, Jacob Wesley, R. Scott McIvor
Published 2020-08-01

An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States

by Therese Conner, Francesca Cook, Vivian Fernandez, Karen Rascati, Vanessa Rangel-Miller
Published 2019-02-01

Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families

by Luning Sun, Chunyi Li, Xiaoyu Song, Ningning Zheng, Haipeng Zhang, Guizhang Dong
Published 2011-01-01

Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families

by Luning Sun, Chunyi Li, Xiaoyu Song, Ningning Zheng, Haipeng Zhang, Guizhang Dong
Published 2011-01-01

Newborn screening in mucopolysaccharidoses

by Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina
Published 2018-11-01

Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy

by Heather G. Mack, R.C. Andrew Symons, Gerard de Jong
Published 2018-03-01

Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series

by Abdellah Tebani, Lahouaria Zanoutene-Cheriet, Zoubir Adjtoutah, Lenaig Abily-Donval, Carole Brasse-Lagnel, Annie Laquerrière, Stephane Marret, Abla Chalabi Benabdellah, Soumeya Bekri
Published 2016-05-01

Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms

by Froissart Roseline, Ferchichi Salima, Bibi Amina, Kassab Asma, Khedhiri Souhir, Chkioua Latifa, Vianey-Saban Christine, Laradi Sandrine, Miled Abdelhedi
Published 2011-04-01

How Not to Miss the Mild Forms of Mucopolysaccharidosis Type I in Patients With Articular Manifestations of the Disease?

by Natalia V. Buchinskaya, Mikhail M. Kostik, Oksana L. Kolobova, Larisa N. Melnikova
Published 2019-01-01

Skeletal system involvement in patients with mucopolysaccharidosis type I

by N. D. Vashakmadze, L. S. Namazova-Baranova, A. K. Gevorkyan, L. M. Kuzenkova, T. V. Podkletnova, M. A. Babaikina, A. V. Anikin, G. V. Kuznetsova, L. A. Osipova
Published 2016-09-01

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

by Alícia Dorneles Dornelles, Louise Lapagesse de Camargo Pinto, Ana Carolina de Paula, Carlos Eduardo Steiner, Charles Marques Lourenço, Chong Ae Kim, Dafne Dain Gandelman Horovitz, Erlane Marques Ribeiro, Eugênia Ribeiro Valadares, Isabela Goulart, Isabel C. Neves de Souza, João Ivanildo da Costa Neri, Luiz Carlos Santana-da-Silva, Luiz Roberto Silva, Márcia Ribeiro, Ruy Pires de Oliveira Sobrinho, Roberto Giuglianiand, Ida Vanessa Doederlein Schwartz
Published 2014-01-01

Clinical manifestation of Hurler syndrome in a 7 year old child

by S Sharma, J R Sabharwal, P Datta, S Sood
Published 2012-01-01

Differences in MPS I and MPS II Disease Manifestations

by Christiane S. Hampe, Brianna D. Yund, Paul J. Orchard, Troy C. Lund, Jacob Wesley, R. Scott McIvor
Published 2021-07-01

Lower Exposure to Busulfan Allows for Stable Engraftment of Donor Hematopoietic Stem Cells in Children with Mucopolysaccharidosis Type I: A Case Report of Four Patients

by Praveen Shukla, Christopher C. Dvorak, Janel Long-Boyle, Sandhya Kharbanda
Published 2020-08-01

Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried b...

by Thomas J. Langan, Kabir Jalal, Amy L. Barczykowski, Randy L. Carter, Molly Stapleton, Kenji Orii, Toshiyuki Fukao, Hironori Kobayashi, Seiji Yamaguchi, Shunji Tomatsu
Published 2020-03-01

Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction

by Patricia L. Hall, Rossana Sanchez, Arthur F. Hagar, S. Caleb Jerris, Angela Wittenauer, William R. Wilcox
Published 2020-01-01

Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications

by Gé-Ann Kuiper, Olga L. M. Meijer, Eveline J. Langereis, Frits A. Wijburg
Published 2018-01-01