Results 41 to 50 of about 5,240 (183)

Severity score system for progressive myelopathy: development and validation of a new clinical scale

Brazilian Journal of Medical and Biological Research, 2012
Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenerative
R.M. Castilhos, D. Blank, C.B.O. Netto, C.F.M. Souza, L.N.T. Fernandes, I.V.D. Schwartz, R. Giugliani, L.B. Jardim   +7 more
doaj   +2 more sources

Otorhinolaryngological Findings in Patients from Southwestern Colombia with Clinical, Enzymatic and Molecular Diagnosis of Mucopolysaccharidosis II, IV-A and VI

Journal of Inborn Errors of Metabolism and Screening, 2020
Mucopolysaccharidosis is characterized by excessive accumulation of glycosaminoglycan sulfate in organs and tissues. Otorhinolaryngological and upper respiratory tract pathologies are among the earliest clinical manifestations.
Lina Johanna Moreno Giraldo, Daniela Arturo-Terranova, José María Satizábal Soto   +2 more
doaj   +1 more source

Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis

, 2022
Mucopolysaccharidosis type IVA (MPS IVA or Morquio A), a lysosomal storage disease with an autosomal recessive inherited pattern, is induced by GALNS gene mutations causing deficiency in N-acetylgalactosamine-6-sulfatase activity (GALNS; EC 3.1.6.4 ...
Chiu, Huei-Ching, Lee, Chung-Lin, Syu, Yu-Min, Chih-Kuang Chuang, Ya-Hui Chang, Lo, Yun-Ting, Chuang, Chih-Kuang, Chung-Lin Lee, Tu, Yuan-Rong, Lin, Hsiang-Yu, Huei-Ching Chiu, Yuan-Rong Tu, Shuan-Pei Lin, Chang, Ya-Hui, Lin, Shuan-Pei, Yu-Min Syu, Yun-Ting Lo, Hsiang-Yu Lin   +17 more
core   +1 more source

Dermatological Characteristics in a Cohort of Patients with Mucopolysaccharidosis from Southwestern Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening
Background: Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders characterized by glycosaminoglycan accumulation and multisystem involvement, including underreported dermatological features.
Johan Conquett Huertas, Winnie Celorio, Jose Maria Satizabal, Lina Moreno Giraldo   +3 more
doaj   +2 more sources

Non-invasive intravenous administration of AAV9 transducing iduronate sulfatase leads to global metabolic correction and prevention of neurologic deficits in a mouse model of Hunter syndrome

Molecular Genetics and Metabolism Reports, 2023
Hunter syndrome is a rare x-linked recessive genetic disorder that affects lysosomal metabolism due to deficiency of iduronate-2-sulfatase (IDS), with subsequent accumulation of glycosaminoglycans heparan and dermatan sulfates (GAG).
Kanut Laoharawee, Kelly M. Podetz-Pedersen, Tam T. Nguyen, Sajya M. Singh, Miles C. Smith, Lalitha R. Belur, Walter C. Low, Karen F. Kozarsky, R. Scott McIvor   +8 more
doaj   +1 more source

Safety, pharmacokinetics and CNS distribution of tralesinidase alfa administered via intracerebroventricular infusion to juvenile cynomolgus monkeys

Toxicology Reports, 2023
Mucopolysaccharidosis Type IIIB (MPS IIIB) is an ultrarare, fatal pediatric disease with no approved therapy. It is caused by mutations in the gene encoding for lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU).
Jason Pinkstaff, Emma McCullagh, Anita Grover, Andrew C. Melton, Anu Cherukuri, Jill CM Wait, Annalisa Nguyen, Mark T. Butt, Jami L. Trombley, Randall P. Reed, Eric.L. Adams, Robert B. Boyd, Sundeep Chandra, Joshua Henshaw, Charles A. O’Neill, Eric Zanelli, Joseph Kovalchin   +16 more
doaj   +1 more source

Diagnosis of Mucopolysaccharidosis Based on History and Clinical Features: Evidence from the Bajio Region of Mexico.

, 2018
Introduction Mucopolysaccharidosis (MPS) are infrequent deposit diseases; generally, the diagnosis is delayed until symptoms appear. Age or presentation is related to the severity of the disease.
Colmenares-Bonilla, Douglas, Gonzalez-Segoviano, Alejandra, Lopez-Gomez, Fanny Guadalupe, Esquivel Garcia, Enrique, Vela-Huerta, Ma Martha, Colin-Gonzalez, Christian   +5 more
core   +1 more source

The Outcome of Allogeneic Hematopoietic Stem Cell Transplantation From Different Donors in Recipients With Mucopolysaccharidosis

Frontiers in Pediatrics, 2022
There is limited information regarding hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis (MPS) IV and VI. This study examined the full donor chimerism, specific lysosomal enzyme levels, and the survival of different MPS children ...
Yuhua Qu, Hao Liu, Likun Wei, Shushan Nie, Wenjiao Ding, Sha Liu, Haiyan Liu, Hua Jiang   +7 more
doaj   +1 more source

Enzyme replacement therapy for mucopolysaccharidosis type IV (Morquio syndrome) [PDF]

, 2018
This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: To assess the effectiveness, safety and appropriate dose regimen of ERT in people with MPS IV A.
Ashma Krishan, Deroma, L, Hendriksz, Christian J., Hollak, C, Hollak, Carla, Shemesh, E, Krishan, A, Shemesh, Elad, Laura Deroma, Elad Shemesh, Carla Hollak, Krishan, Ashma; id_orcid, Krishan, Ashma, Deroma, Laura, Christian J Hendriksz, Hendriksz, CJ   +15 more
core   +1 more source

SÍNDROME DE MORQUIO (MUCOPOLISACARIDOSIS TIPO IV) Y EMBARAZO

Revista Chilena de Obstetricia y Ginecología, 2005
Se presenta el caso de una paciente embarazada, portadora de Síndrome de Morquio (Mucopolisacaridosis tipo IV), que evoluciona con polihidroamnios y disnea.
Hugo Salinas P., Jessica Preisler R., Julio Astudillo D., Sergio Cerda S.M., Silvia Castillo T., Flor Fernández S., Rodolfo Ide V.   +6 more
doaj