Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives

M Solomon, S Muro - Advanced drug delivery reviews, 2017 - Elsevier
Lysosomes and lysosomal enzymes play a central role in numerous cellular processes,
including cellular nutrition, recycling, signaling, defense, and cell death. Genetic deficiencies …

Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment: a special review

S Tomatsu, AM Montano, H Oikawa… - Current …, 2011 - ingentaconnect.com
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A, is a rare, autosomal
recessive disorder caused by a deficiency of the lysosomal enzyme N-acetylgalatosamine-6 …

International Morquio A Registry: clinical manifestation and natural course of Morquio A disease

AM Montaño, S Tomatsu, GS Gottesman… - Journal of Inherited …, 2007 - Wiley Online Library
Summary Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is a lysosomal storage
disorder caused by deficiency of N‐acetylgalactosamine‐6‐sulfate sulfatase. The natural …

Mucopolysaccharidosis IVA and glycosaminoglycans

S Khan, CJ Alméciga-Díaz, K Sawamoto… - Molecular genetics and …, 2017 - Elsevier
Abstract Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal
storage disease with an autosomal recessive trait caused by the deficiency of N …

Morquio A syndrome: diagnosis and current and future therapies

S Tomatsu, E Yasuda, P Patel… - Pediatric …, 2014 - pmc.ncbi.nlm.nih.gov
Morquio A syndrome is an autosomal recessive disorder, one of 50 lysosomal storage
diseases (LSDs), and is caused by the deficiency of N-acetylgalactosamine-6-sulfate …

Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy

J Bertolin, V Sánchez, A Ribera, ML Jaén… - Nature …, 2021 - nature.com
Mucopolysaccharidosis type IVA (MPSIVA) or Morquio A disease, a lysosomal storage
disorder, is caused by N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency …

Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome

S Tomatsu, AM Montaño, VC Dung, A Ohashi… - Molecular Therapy, 2010 - cell.com
Mucopolysaccharidosis IVA (MPS IVA, Morquio A disease) is an inherited lysosomal storage
disorder that features skeletal chondrodysplasia caused by deficiency of N …

Morquio A Syndrome‐Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus‐Specific Database

A Morrone, A Caciotti, R Atwood, K Davidson… - Human …, 2014 - Wiley Online Library
Morquio A syndrome (mucopolysaccharidosis IVA) is an autosomal recessive disorder that
results from deficient activity of the enzyme N‐acetylgalactosamine‐6‐sulfatase (GALNS) …

Enzyme replacement therapy in a murine model of Morquio A syndrome

S Tomatsu, AM Montaño, A Ohashi… - Human molecular …, 2008 - academic.oup.com
Abstract Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused
by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), leading to …

Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder

E Yasuda, K Fushimi, Y Suzuki, K Shimizu… - Molecular Genetics and …, 2013 - Elsevier
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder
caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase, which results in systemic …