Results 151 to 160 of about 2,254 (171)

Echocardiography in Mucopolysaccharidosis Iva: Evaluation of Enzyme Replacement Therapy

ARQUIVOS BRASILEIROS DE CARDIOLOGIA - IMAGEM CARDIOVASCULAR, 2017
Imara Correia de Queiroz Barbosa, Isadora Souza Paula, Isabela Catarina Pessoa Melo, Saulo Magalhães Barros Nóbrega, Cátia Sueli de Souza Eufrazino, Paula Frassineti V. Medeiros   +5 more
openaire   +1 more source

Muskoskeletal manifestations of mild form of mucopolysaccharidosis iva - a clinical case [PDF]

Pediatr Rheumatol Online J, 2014
Ganeva M, Stefanov S, Avdjieva D, Tincheva R, Sinigerska I, Zahariev D, Bachvarova J, Todorova Z.   +7 more
europepmc   +1 more source

Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII. [PDF]

JIMD Rep, 2014
Shimada T, Tomatsu S, Yasuda E, Mason RW, Mackenzie WG, Shibata Y, Kubaski F, Giugliani R, Yamaguchi S, Suzuki Y, Orii K, Orii T.   +11 more
europepmc   +1 more source

Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS). [PDF]

Orphanet J Rare Dis
Stepien KM, Burton BK, Bober MB, Campeau PM, Ellaway C, Bhattacharya K, Guffon N, Hinds D, Hunt A, Lail A, Lin SP, Magner M, Murphy E, Reisewitz P, Mitchell JJ.   +14 more
europepmc   +1 more source

A novel image-based classification system for atlantoaxial deformity caused by mucopolysaccharidosis type IVA: an efficacy evaluation. [PDF]

J Orthop Surg Res
Zhang QQ, Wen-Ji S, Song J, Liang ZH, Zhou FC, Liu HT, Shao J, Zhang YH.   +7 more
europepmc   +1 more source

Craniovertebral Junction Compression in Patients With Morquio Syndrome: Case Series and Literature Review. [PDF]

Cureus
Rakshit P, Sadayandi Ramesh A, Gopikrishnan R, Mani MK, Sathia Prabhu A.   +4 more
europepmc   +1 more source

Mucopolysaccharidoses: A biochemical study under limited resources. [PDF]

Mol Genet Metab Rep
Bouzid F, El Fissi H, Karim K, Sebbar MS, Jabir B, Chuis N, Msanda F, Alif N.   +7 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Cervical Disorders in Mucopolysaccharidosis IVA—Morquio disease

World Neurosurgery, 2021
Morquio disease or mucopolysaccharidosis type IVA (Online Mendelian Inheritance in Man No. 253000) is a rare autosomal recessive disease classified in the group of metabolism inborn errors. The glycosaminoglycans accumulate in chondrocytes, which disturbs bone growth and leads to skeletal manifestations, such as skeletal dysplasia and a short stature ...
Zeferino, Demartini, Ricardo, Munhoz da Rocha Guimaraes, Adriane A, Cardoso-Demartini   +2 more
openaire   +2 more sources

Mucopolysaccharidosis type IVA (morquio syndrome): A clinical review

Journal of Inherited Metabolic Disease, 1995
SummaryPatients with MPS IV have a clinical disorder quite different from other MPS conditions. The major treatment issue revolves around the prevention of cervical myelopathy, although the other aspects of this multisystem disease should not be forgotten.
H, Northover, R A, Cowie, J E, Wraith
openaire   +2 more sources

Molecular genetic assay of mucopolysaccharidosis IVA in South China

Gene, 2013
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Molecular mutational analysis was performed by PCR product sequencing for fourteen exons and exon-intron boundaries of GALNS gene in 21 patients from 19 unrelated families with severe ...
Dengmin, He, Yonglan, Huang, Zhiying, Ou, Huiying, Sheng, Sheyong, Li, Xiaoyuan, Zhao, Ru, Li, Jipeng, Zheng, Li, Liu   +8 more
openaire   +2 more sources