What's New

Last Posted: Apr 27, 2023

• Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.
  Sikha Singh et al. Int J Neonatal Screen 9(2)
• Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
  S Singh et al, IJNS, April 2023
• Addition of MPS-II to the Recommended Uniform Screening Panel in the United States
  DS Millington et al, IJNS, October 11, 2022
• A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
  Zhang Tong et al. Molecular genetics and metabolism 2022
• Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome
  B Gentner et al, NEJM, November 18, 2021
• Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study.
  Alsafadi Danyah et al. JMIR research protocols 2021 10(8) e28619
• Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
  Peck Dawn S et al. International journal of neonatal screening 2020 Feb 6(1)
• Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI.
  Ames Elizabeth G et al. International journal of neonatal screening 2020 Sep 6(3)
• Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.
  Gragnaniello Vincenza et al. International journal of neonatal screening 2020 Nov 6(4)
• Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences.
  Kellar-Guenther Yvonne et al. International journal of neonatal screening 2020 Jun 6(2) 35
• Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.
  Bosfield Kerri et al. American journal of medical genetics. Part A 2020 Oct
• A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
  Sanders Karen A et al. International journal of neonatal screening 2020 Jun 6(2)
• Newborn screening of mucopolysaccharidoses: past, present, and future.
  Arunkumar Nivethitha et al. Journal of human genetics 2020 Apr
• Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms.
  Langan Thomas J et al. JIMD reports 2020 Mar 52(1) 35-42
• The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.
  Taylor Jennifer L et al. The Journal of pediatrics 2019 May
• Lessons Learned from Newborn Screening in Pilot Studies.
  Taylor Jennifer L et al. North Carolina medical journal 80(1) 54-58
• Leveraging Evidence-Based Public Policy and Advocacy to Advance Newborn Screening in California.
  Bronstein Max G et al. Pediatrics 2019 Jan
• Newborn screening in mucopolysaccharidoses.
  Donati Maria Alice et al. Italian journal of pediatrics 2018 Nov 44(Suppl 2) 126
• International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
  Parini Rossella et al. Acta paediatrica (Oslo, Norway : 1992) 2018 Sep
• CLINGEN Actionability Report for Mucopolysaccharidosis type I-IDUA
  ClinGen Actionability Working Group
• Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.
  Kuiper Gé-Ann et al. Orphanet journal of rare diseases 2019 14(1) 17
• IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
  Ghosh Arunabha et al. Human mutation 2017 Nov 38(11) 1555-1568
• Open issues in Mucopolysaccharidosis type I-Hurler.
  Parini Rossella et al. Orphanet journal of rare diseases 2017 Jun 12(1) 112
• Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.
  Eisengart Julie B et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar
• Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
  Burlina Alberto B et al. Journal of inherited metabolic disease 2017 Nov
• Precision newborn screening for lysosomal disorders.
  Minter Baerg Melissa M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov
• 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.
  Navarrete-Martínez Juana Inés et al. Molecular genetics and metabolism 2017 Mar
• Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.
  Clarke Lorne A et al. The Journal of pediatrics 2016 Dec
• Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
  da Silva Edina Mk et al. The Cochrane database of systematic reviews 2016 Feb CD008185
• Mucopolysaccharidosis type I
  From NCATS Genetic and Rare Diseases Information Center
• Mucopolysaccharidosis type II
  From NCATS Genetic and Rare Diseases Information Center
• Mucopolysaccharidosis type III
  From NCATS Genetic and Rare Diseases Information Center
• Mucopolysaccharidosis type IIIA
  From NCATS Genetic and Rare Diseases Information Center
• Mucopolysaccharidosis type IIIB
  From NCATS Genetic and Rare Diseases Information Center
• Mucopolysaccharidosis type IIIC
  From NCATS Genetic and Rare Diseases Information Center
• Mucopolysaccharidosis type IIID
  From NCATS Genetic and Rare Diseases Information Center
• Mucopolysaccharidosis type IV
  From NCATS Genetic and Rare Diseases Information Center
• Mucopolysaccharidosis type IVA
  From NCATS Genetic and Rare Diseases Information Center
• Mucopolysaccharidosis type VI
  From NCATS Genetic and Rare Diseases Information Center
• Mucopolysaccharidosis type VII
  From NCATS Genetic and Rare Diseases Information Center