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- Title
- Molecular basis of mucopolysaccharidosis type IVA (Morquio syndrome type A): A review and classification of GALNS gene variants and reporting of new variants
- Creators - without role
- Akashdeep Singh - BioMarinAlessandra Zanetti - Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova, Padova, ItalyAmelia Morrone - Meyer Children's HospitalMoeenaldeen Al-Sayed - King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaAna Carolina Brusius-Facchin - National Institute on Population Medical GeneticsYin-Hsiu Chien - National Taiwan University HospitalFrancesca D'Avanzo - Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova, Padova, ItalyRoberto Giugliani - National Institute on Population Medical GeneticsEmanuela Izzo - BioMarinDavid C. Kasper - ARCHIMED Life Science GmbH, Vienna, AustriaHsiang-Yu Lin - Mackay Memorial HospitalShuan-Pei Lin - Mackay Memorial HospitalLaura Pollard - Greenwood Genetic CenterRodolfo Tonin - Meyer Children's HospitalTim Wood - Greenwood Genetic CenterRosella Tomanin - Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova, Padova, Italy
- Publication Details
- Molecular genetics and metabolism, Vol.132(2), pp.S101-S101
- Publisher
- Elsevier Inc
- Identifiers
- 9913993608331
- Academic Unit
- King Faisal University; Alfaisal University
- Language
- English
- Resource Type
- Journal article