Results 181 to 190 of about 1,451,354 (224)

Mucopolysaccharidosis type IV: N-Acetylgalactosamine-6-sulfatase mutations in Tunisian patients

Molecular Genetics and Metabolism, 2006
Mucopolysaccharidosis type IVA (MPS IVA; OMIM #253000) or Morquio A syndrome is an autosomal recessive inborn error resulting from the deficient activity of the lysosomal enzyme, N-acetylgalactosamine-6-sulfatase (GALNS), and the progressive lysosomal accumulation of sulfated glycosaminoglycans.
S, Laradi, T, Tukel, S, Khediri, J, Shabbeer, M, Erazo, L, Chkioua, M, Chaabouni, S, Ferchichi, A, Miled, R J, Desnick   +9 more
openaire   +2 more sources

Ultrastructure of lymphocytes and skin in mucopolysaccharidosis IV A (Morquio Syndrome)

Brain and Development, 1981
Contrary to the reported absence of lymphocytic vacuoles in Morquio syndrome, lysosomal vacuoles were demonstrated by electron microscopy in lymphocytes and dermal cells of a 2 1/2-year-old Turkish girl biochemically and clinically proven to have type A of MPS IV or Morquio syndrome.
K, Ikeda, U, Burck, H H, Goebel
openaire   +2 more sources

Dental findings in mucopolysaccharidosis type IV A (Morquio's disease type A)

Oral Surgery, Oral Medicine, Oral Pathology, 1990
Dental examinations on nine patients with mucopolysaccharidosis type IV A (MPS IV A, Morquio's disease type A) were carried out. Detailed medical, radiologic, and biochemical studies of each case were also performed independently. Dental changes were present in all cases, although the severity varied.
M J, Kinirons, J, Nelson
openaire   +2 more sources

A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV)

Pediatric Radiology, 2023
Sirwa Padash, Haron Obaid, Robert D. E. Henderson, Yaseen Padash, S. Adams, S. Miller, P. Babyn   +6 more
semanticscholar   +1 more source

Inflammatory process and oxidative/nitrative stress: In vivo study in mucopolysaccharidosis type IV a patients under long-term enzyme replacement therapy.

Archives of Biochemistry and Biophysics, 2023
Camila Aguilar Delgado, Tatiane Hammerschimdt, Jéssica Lamberty Faverzini, F. Lopes, R. Giugliani, G. Baldo, C. Vargas   +6 more
semanticscholar   +1 more source

Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study

Clinical Oral Investigations, 2017
Renata Quirino de Almeida-Barros, P. Medeiros, Marcella Quirino Almeida Azevedo, A. Oliveira Lira Ortega, Â. Yamamoto, Sheyla Kátia Lúcio Dornelas, P. Bento   +6 more
semanticscholar   +2 more sources

Evaluation of HIV-1 derived lentiviral vectors as transductors of Mucopolysaccharidosis type IV A fibroblasts.

Gene, 2021
María Alejandra Puentes-Tellez, O. Sánchez, Felipe Rojas-Rodríguez, Eliana Benincore-Flóre, H. Barbosa, C. J. Almecíga Diáz   +5 more
semanticscholar   +1 more source

Taurodontism in mucopolysaccharidosis (MPS) type IV B.

1996
Taurodontism in mucopolysaccharidosis (MPS) type IV B.
Verzak, Željko, Škrinjarić, Ilija
openaire  

First Case of Prenatal Diagnostics of Type IV Mucopolysaccharidosis (Morquio Syndrome) in Azerbaijan Republic

Bulletin of Science and Practice, 2022
S. Alizada, K. Aliyeva, A. Mammadbeyli, Sh. Musayev, E. Rasulov   +4 more
semanticscholar   +1 more source

Chondro-osteodystrophy (Morquio Brailsford disease, mucopolysaccharidosis type IV A).

Irish medical journal, 1993
We report three cases of Morquio Brailsford Disease (Mucopolysaccharidosis Type IV A) in an Irish family. We are unaware of any previous similar report from this Country.
S, Roche, J, Callaghan, J F, Fielding
openaire   +1 more source