present in Gene: GALNS
present in Chromosome: 16
Position on Chromosome: 88842828
Alleles of this Variant: A/T
rs1555523411 in
GALNS gene and
Dysmorphic features
PMID 28428354 2017 Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.
PMID 23385297 2013 Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.
PMID 25897204 2015 Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.
PMID 22358740 2013 Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.
PMID 21506915 2011 Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.
PMID 12728175 2003 Upper airways abnormalities and tracheal problems in Morquio's disease.
PMID 22543891 2012 Functional capacity evaluation of patients with mucopolysaccharidosis.
PMID 9189888 1997 MRI of the brain and craniocervical junction in Morquio's disease.
PMID 17347914 2007 International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.
PMID 16539564 2006 Multidisciplinary treatment approach of Morquio syndrome (Mucopolysaccharidosis Type IVA).
PMID 16287098 2005 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
PMID 7741581 1995 The mucopolysaccharidoses: a clinical review and guide to management.
PMID 27774754 2017 Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.
rs1555523411 in
GALNS gene and
Muscle hypotonia
PMID 27774754 2017 Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.
PMID 9189888 1997 MRI of the brain and craniocervical junction in Morquio's disease.
PMID 17347914 2007 International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.
PMID 22543891 2012 Functional capacity evaluation of patients with mucopolysaccharidosis.
PMID 28428354 2017 Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.
PMID 21506915 2011 Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.