Results 101 to 110 of about 1,973 (193)

Circumventing antivector immunity: potential use of nonhuman adenoviral vectors [PDF]

, 2014
Adenoviruses are efficient gene delivery vectors based on their ability to transduce a wide variety of cell types and drive high-level transient transgene expression. While there have been advances in modifying human adenoviral (HAdV) vectors to increase
Beard C.W., Benkö M., Cauthen A.N., Crawford-Miksza L., Estrella Lopez-Gordo, Gall J., Gall J.G., Gattoni A., Ginsberg H.S., Haviv Y.S., Hofmann C., Iva I. Podgorski, Kajon A.E., Kanerva A., Kass-Eisler A., Kuriyama S., Mastrangeli A., Michou A.I., Nicholas Downes, Ramon Alemany, Rogozhin V.N., Roy S., Seiradake E., Shmarov M.M., Soudais C., Tutykhina I.L., Wang D.Y., Wohlfart C., Ying B., Zakhartchouk A.N., Zeng Q.   +30 more
core   +3 more sources

Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long‐term management

Clinical Endocrinology, Volume 101, Issue 5, Page 562-568, November 2024.
Adrian H. Heald, John Bassett, Nuria Puente‐Ruiz, Peter Clayton, Karolina M. Stepien   +4 more
wiley   +1 more source

Typical presentation of mucopolysaccharidosis type IVA: a case report

International Journal of Contemporary Pediatrics
Mucopolysaccharidosis (MPS) IVA, or Morquio syndrome, is a rare lysosomal storage disorder characterized by skeletal dysplasia. It is caused due to deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS), which results from an autosomal recessive mutation in the GALNS gene. The frequency of this mutation is equivalent in men and women.
Kovvuru Ashrita, Ethuri Lokesh
openaire   +1 more source

Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2015
Mucopolysaccharidosis type IVA (MPS IVA) is an inborn error of glycosaminoglycan (GAG) catabolism due to the deficient activity of N-acetylgalactosamine-6-sulfate sulfatase that leads to accumulation of the keratan sulfate and chondroitin 6-sulfate in body fluids and in lysosomes. The pathophysiology of this lysosomal storage disorder is not completely
Donida, Bruna, Marchetti, Desirèe P., Biancini, Giovana B., Deon, Marion, Manini, Paula R., da Rosa, Helen T., Moura, Dinara J., Saffi, Jenifer, Bender, Fernanda, Burin, Maira G., Coitinho, Adriana S., Giugliani, Roberto, Vargas, Carmen Regla   +12 more
openaire   +2 more sources

Role of elosulfase alfa in mucopolysaccharidosis IVA

The Application of Clinical Genetics, 2016
Debra S Regier, Pranoot Tanpaiboon Division of Genetics and Metabolism, Children’s National Medical Center, Washington, DC, USA Abstract: Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive lysosomal storage disease
Regier DS, Tanpaiboon P
doaj  

A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance

Case Reports in Medicine, 2012
We report on a rare case of Morquio syndrome, an autosomal recessive mucopolysaccharidosis including type IVA, a deficiency of N-acetylgalctosamine-6-sulfatase and type IVB a deficiency of β-galactosidase.
Annalisa Di Cesare, Alessandra Di Cagno, Stefano Moffa, Paolucci Teresa, Innocenzi Luca, Arrigo Giombini   +5 more
doaj   +1 more source

Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS)

Genomics, 1995
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency in N-acetylgalactosamine-6-sulfatase (GALNS). We found two separate deletions of nearly 8.0 and 6.0 kb in the GALNS gene, including some exons. There are Alu repetitive elements near the breakpoints of the 8.0-kb deletion, and this deletion resulted from an ...
Toshinori Hori, Shunji Tomatsu, Yoshihiro Nakashima, Atsushi Uchiyama, Seiji Fukuda, Kazuko Sukegawa, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Terumi Horiuchi, Satoshi Ogura, Tadao Orii   +11 more
openaire   +2 more sources

Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction

Molecular Medicine
Background Biallelic pathogenic variants in the GALNS gene lead to Mucopolysaccharidosis Type IVA (MPS IVA), a rare lysosomal storage disorder.
Igor Bychkov, Elza Shchukina, Ekaterina Zakharova   +2 more
doaj   +1 more source

Functional independence of Taiwanese patients with mucopolysaccharidoses

Molecular Genetics & Genomic Medicine, 2019
Background Information on functional strengths and weaknesses of mucopolysaccharidosis (MPS) patients is important for early intervention programs and enzyme replacement therapy (ERT).
Chung‐Lin Lee, Hsiang‐Yu Lin, Chih‐Kuang Chuang, Huei‐Ching Chiu, Ru‐Yi Tu, You‐Hsin Huang, Wuh‐Liang Hwu, Fuu‐Jen Tsai, Pao‐Chin Chiu, Dau‐Ming Niu, Yann‐Jang Chen, Mei‐Chyn Chao, Tung‐Ming Chang, Ju‐Li Lin, Chia‐Ying Chang, Yu‐Chia Kao, Shuan‐Pei Lin   +16 more
doaj   +1 more source

Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses

Diagnostics, 2019
Background: Children with mucopolysaccharidosis (MPS) generally appear unaffected at birth but may develop multiple clinical manifestations including profound growth impairment as they grow older. Each type of MPS has a variable age at onset and variable
Hsiang-Yu Lin, Chung-Lin Lee, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin   +10 more
doaj   +1 more source