Mucopolysaccharidosis Type I
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
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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