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Title
Mucopolysaccharidosis Type I
Authors
Keywords
-
Journal
Diagnostics
Volume 10, Issue 3, Pages 161
Publisher
MDPI AG
Online
2020-03-17
DOI
10.3390/diagnostics10030161
References
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Note: Only part of the references are listed.- Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future
- (2019) Madeleine Taylor et al. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
- Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart
- (2019) Ana Carolina Brusius-Facchin et al. GENETICS AND MOLECULAR BIOLOGY
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- (2019) Lorne A. Clarke et al. CLINICAL GENETICS
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- (2019) Natalia Gomez-Ospina et al. Nature Communications
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- (2018) E. Poletto et al. CLINICAL GENETICS
- Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns
- (2018) David Millington et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
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- (2018) Julie B Eisengart et al. GENETICS IN MEDICINE
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- (2018) Molly Stapleton et al. MOLECULAR GENETICS AND METABOLISM
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- (2018) Roberto Giugliani et al. Orphanet Journal of Rare Diseases
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- (2018) Rossella Parini et al. ACTA PAEDIATRICA
- Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses
- (2018) Jennifer T. Saville et al. GENETICS IN MEDICINE
- Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy
- (2018) Fabiano de Oliveira Poswar et al. HEART AND VESSELS
- Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI
- (2018) Min-Ju Chan et al. JOURNAL OF PEDIATRICS
- Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial
- (2018) Torayuki Okuyama et al. MOLECULAR THERAPY
- ZFN-Mediated In Vivo Genome Editing Corrects Murine Hurler Syndrome
- (2018) Li Ou et al. MOLECULAR THERAPY
- Sangamo's landmark genome editing trial gets mixed reception
- (2018) Cormac Sheridan NATURE BIOTECHNOLOGY
- The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
- (2017) Peter D. Stenson et al. HUMAN GENETICS
- Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
- (2017) Alberto B. Burlina et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management
- (2017) Lorne A. Clarke et al. JOURNAL OF PEDIATRICS
- Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system
- (2017) Juana Inés Navarrete-Martínez et al. MOLECULAR GENETICS AND METABOLISM
- Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses
- (2017) Francyne Kubaski et al. MOLECULAR GENETICS AND METABOLISM
- Glycosaminoglycans detection methods: Applications of mass spectrometry
- (2017) Francyne Kubaski et al. MOLECULAR GENETICS AND METABOLISM
- Brain and Organ Uptake in the Rhesus Monkey in Vivo of Recombinant Iduronidase Compared to an Insulin Receptor Antibody–Iduronidase Fusion Protein
- (2017) Ruben J. Boado et al. MOLECULAR PHARMACEUTICS
- Open issues in Mucopolysaccharidosis type I-Hurler
- (2017) Rossella Parini et al. Orphanet Journal of Rare Diseases
- Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs
- (2016) Elizabeth Braunlin et al. HEART
- Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study
- (2016) Julia B. Hennermann et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry
- (2016) Francyne Kubaski et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I
- (2016) Sarah Laraway et al. JOURNAL OF PEDIATRICS
- Neurodevelopmental Outcome after Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Current Considerations and Future Perspectives
- (2016) Peter van Hasselt et al. NEUROPEDIATRICS
- Can Macrosomia or Large for Gestational Age Be Predictive of Mucopolysaccharidosis Type I, II and VI?
- (2016) Agnieszka Różdżyńska-Świątkowska et al. Pediatrics and Neonatology
- Hematopoietic Cell Transplantation for Mucopolysaccharidosis Patients Is Safe and Effective: Results after Implementation of International Guidelines
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- (2015) A. B. Kumar et al. CLINICAL CHEMISTRY
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- (2015) Elsa G. Shapiro et al. MOLECULAR GENETICS AND METABOLISM
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- (2015) Abhijit Ricky Pal et al. Orphanet Journal of Rare Diseases
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- (2015) Nouriya A. Al-Sannaa et al. Orphanet Journal of Rare Diseases
- Newborn screening for lysosomal storage disorders
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- A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
- (2013) Shuan-Pei Lin et al. Orphanet Journal of Rare Diseases
- Dental findings and oral health status in patients with mucopolysaccharidosis: a case series
- (2012) Lívia Azeredo Alves Antunes et al. ACTA ODONTOLOGICA SCANDINAVICA
- Mucopolysacccharidoses: from understanding to treatment, a century of discoveries
- (2012) Roberto Giugliani GENETICS AND MOLECULAR BIOLOGY
- Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans
- (2012) Minke H. de Ru et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2012) Lachlan J. Smith et al. MOLECULAR GENETICS AND METABOLISM
- Disease-specific non–reducing end carbohydrate biomarkers for mucopolysaccharidoses
- (2012) Roger Lawrence et al. Nature Chemical Biology
- Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine
- (2011) D D Rasalkar et al. BRITISH JOURNAL OF RADIOLOGY
- Analysis of Glycosaminoglycans in Cerebrospinal Fluid from Patients with Mucopolysaccharidoses by Isotope-Dilution Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry
- (2011) H. Zhang et al. CLINICAL CHEMISTRY
- Simplified Newborn Screening Protocol for Lysosomal Storage Disorders
- (2011) T. F. Metz et al. CLINICAL CHEMISTRY
- Applications of electrowetting-based digital microfluidics in clinical diagnostics
- (2011) Michael G Pollack et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management
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- Enzyme Replacement Therapy and/or Hematopoietic Stem Cell Transplantation at diagnosis in patients with Mucopolysaccharidosis type I: results of a European consensus procedure
- (2011) Minke H de Ru et al. Orphanet Journal of Rare Diseases
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- (2010) ELEANOR McGOVERN et al. International Journal of Paediatric Dentistry
- Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I
- (2010) Shunji Tomatsu et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI
- (2010) Christiane Auray-Blais et al. MOLECULAR GENETICS AND METABOLISM
- The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses
- (2009) Vlasta Fesslová et al. CARDIOLOGY IN THE YOUNG
- Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy
- (2009) Robert F. Wynn et al. JOURNAL OF PEDIATRICS
- Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II
- (2009) Raymond Y. Wang et al. MOLECULAR GENETICS AND METABOLISM
- Localized donor cells in brain of a Hunter disease patient after cord blood stem cell transplantation
- (2009) Ken Araya et al. MOLECULAR GENETICS AND METABOLISM
- Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression
- (2008) Maria-Veronica Munoz-Rojas et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I
- (2008) S. Blanchard et al. CLINICAL CHEMISTRY
- Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I
- (2008) L. A. Clarke et al. PEDIATRICS
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