Pages that link to "Q45345658"
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The following pages link to Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). (Q45345658):
Displaying 50 items.
- Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database (Q26824085) (← links)
- The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A (Q27671826) (← links)
- Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA (Q30537233) (← links)
- Hematopoietic stem cell transplantation for Morquio A syndrome (Q30809579) (← links)
- MACSIMS: multiple alignment of complete sequences information management system (Q33247635) (← links)
- Gene expression profiles of lens regeneration and development in Xenopus laevis (Q33493483) (← links)
- Current and emerging treatments and surgical interventions for Morquio A syndrome: a review (Q33610398) (← links)
- Orthopedic management of the extremities in patients with Morquio A syndrome (Q34028791) (← links)
- Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations (Q34373560) (← links)
- Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: implication in Morquio A disease (Q34556008) (← links)
- Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y. (Q36426886) (← links)
- Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA. (Q36434254) (← links)
- Diagnosing mucopolysaccharidosis IVA (Q36662855) (← links)
- Atypical presentation of mucopolysaccharidosis type IVA (Q37009368) (← links)
- Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA (Q37126295) (← links)
- Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses (Q37127617) (← links)
- Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels (Q37189808) (← links)
- Mucopolysaccharidosis IVA and glycosaminoglycans. (Q37626886) (← links)
- Diagnosis of the mucopolysaccharidoses (Q37972590) (← links)
- Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. (Q38079402) (← links)
- Elosulfase Alfa: a review of its use in patients with mucopolysaccharidosis type IVA (Morquio A syndrome). (Q38246994) (← links)
- Epidemiology of mucopolysaccharidoses. (Q38735623) (← links)
- Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations (Q38924874) (← links)
- Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study (Q39436172) (← links)
- Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations (Q39552940) (← links)
- Effect of elongation factor 1alpha promoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase (Q39920364) (← links)
- 30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case (Q41466662) (← links)
- Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome. (Q41590797) (← links)
- A rare case of mucopolysaccharidosis (Q41845126) (← links)
- Enzyme replacement therapy for Morquio A: an active recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Escherichia coli BL21. (Q43003849) (← links)
- Keratan sulfate/keratin metabolism (Q45317189) (← links)
- Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins (Q48169854) (← links)
- The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. (Q48288095) (← links)
- Home infusion with Elosulfase alpha (VimizimR) in a UK Paediatric setting (Q49850720) (← links)
- Defective GALNS does not hydrolyse sulfate from Gal6S in keratan sulfate (Q50289073) (← links)
- International Morquio A Registry: clinical manifestation and natural course of Morquio A disease (Q51762816) (← links)
- Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase (Q51794664) (← links)
- International guidelines for the management and treatment of Morquio A syndrome. (Q53082504) (← links)
- Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA. (Q53341440) (← links)
- Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations. (Q54422759) (← links)
- Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA. (Q55425884) (← links)
- Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease (Q57279815) (← links)
- Génétique des mucopolysaccharidoses (Q59697932) (← links)
- Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe (Q64100043) (← links)
- Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study. (Q64992325) (← links)
- Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain (Q83949326) (← links)
- Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A (Q85692842) (← links)
- Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA (Q88741300) (← links)
- Outcomes from 18 years of cervical spine surgery in MPS IVA: a single centre's experience (Q89272230) (← links)
- A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months (Q89552955) (← links)