Results 121 to 130 of about 1,596 (158)

Correction to "Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA)". [PDF]

ACS Omega
Priya N M, Vasudevan V, N SK, Ahmed SS, Ramasamy M.   +4 more
europepmc   +1 more source

Assessment of bone health and bone mineral density in patients with mucopolysaccharidosis receiving enzyme replacement therapy. [PDF]

BMC Pediatr
El Feil NSA, Abuzaid Y, Mobarak A.
europepmc   +1 more source

Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB. [PDF]

JIMD Rep
Wijnen M, van Velsen EFS, Milhous JG, Oussoren E, van der Eerden BCJ, Wagenmakers MAEM.   +5 more
europepmc   +1 more source

Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses. [PDF]

Biochem Biophys Rep
Oboshi W, Hirakiyama A, Miura M, Omachi H, Tanaka M, Seo JH, Ohtake A, Osawa Y, Ishige M, Kosuga M, Munenaga T, Migita O, Nyuzuki H, Sasai H, Fukuda T, Sano S, Ito T, Bo R, Takeshima Y, Esaki H, Inoue T, Nagamitsu S, Watanabe Y, Nakamura K, Sawada H, Maruyama S, Murayama K, Okuyama T.   +27 more
europepmc   +1 more source

Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA). [PDF]

ACS Omega
Priya M, Vasudev V, N SK, Ahmed SS, Ramasamy M.   +4 more
europepmc   +1 more source

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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

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)

Human Mutation, 2005
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal-recessive disorder caused by a deficiency of lysosomal N-acetylgalactosamine-6-sulfate sulfatase (GALNS; E.C.3.1.6.4). GALNS is required to degrade glycosaminoglycans, keratan sulfate (KS), and chondroitin-6-sulfate. Accumulation of undegraded substrates in lysosomes of the affected
Shunji Tomatsu, Adriana M Montano, Mónica A Gutierrez   +2 more
exaly   +3 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